Idiopathic Group Research Articles

Initiating Ponseti management in preterm infants with clubfoot at term age.

Purpose:Currently, the optimal time to initiate treatment among preterm infants with clubfoot is unknown. The aim of this study was to describe treatment outcomes up to 1 year post-correction following Ponseti management in infants who were born preterm but treated at term age.Methods:A retrospective chart audit was conducted at a major pediatric hospital on preterm infants with clubfoot who commenced Ponseti management at term age (≥37 weeks of gestation). Data are expressed as mean values (±standard deviation) or 95% confidence intervals (95% CIs).Results:Twenty-six participants (40 feet) born at 32.6/40 (±3.1) weeks of gestation were identified. Thirteen (50%) were male, 14 (54%) presented bilaterally, and 7 (27%) presented with syndromic clubfoot. Ponseti management was initiated at 41.4/40 (±2.8) weeks gestation. Baseline Pirani scores were 5.2 (95%CI: 4.8–5.6) in the idiopathic group and 5.7 (95%CI: 5.0–6.4) in the syndromic group. The number of casts to correction was 5.9 (95% CI: 5.1–6.6) for those with idiopathic clubfoot and 6.1 (95%CI: 5.0–7.3) for those with syndromic clubfoot. Achilles tenotomies were required in 13 (21 feet) with idiopathic clubfoot and five (7 feet) with syndromic clubfoot. Recurrence occurred in four infants (5 feet): 4 feet required further casting and bracing, and 1 foot required additional surgery.Conclusion:Ponseti management at term age in preterm-born infants yields comparable 1-year outcomes to term-born infants. Further research is required to determine whether outcomes beyond 1 year of age align with growth and development demonstrated by term-born infants who are managed with the Ponseti method.Level of evidence:Level IV.

A PROSPECTIVE LONGITUDINAL OBSERVATIONAL STUDY ON ACUTE PANCREATITIS: FACTORS INFLUENCING MORBIDITY AND MORTALITY

Background: Acute pancreatitis presents a broad clinical spectrum ranging from cases so mild that symptoms abate before the diagnosis is actively pursued, to cases which progress rapidly to multisystem failure and eventual demise of patient despite current mode of therapy. Aims And Objectives: To determine factors related to disease severity, mortality and morbidity in acute pancreatitis. Materials And Methods: Study design: A prospective longitudinal observational study. Study area: Ramakrishna Mission Seva Pratishthan Hospital, Kolkata. Study period: April 2017 to March 2018 Sample size: 76 patients diagnosed with acute pancreatitis after admission. All patients were subjected to a thorough history taking, clinical examination, routine blood tests and imaging and monitoring of vitals. Patients with complications like sepsis, shock or organ failure was treated in ICU, with invasive and non-invasive monitoring. Thorough IV uid resuscitation and appropriate analgesics were used with conservative management. Initially put in NPM, started with enteral feeding when ileus subsided or parenteral feeding at appropriate time if clinically unstable. ERCP was done followed by open/laparoscopic cholecystectomy in gallstone pancreatitis patients. Results: The overall mortality for the study group was 11.8 % and the morbidity rate was 31.5 %. The mortality for male was greater than that for female. The mortality for patients over 50 years of age was greater than that of patients below 50 years of age. The mean duration of hospitalization for the total study group was 14 days and it was found to be higher in male (18 days) than for female (10 days). The mortality for this idiopathic group(n=4, 16.67%) was found to be higher than that for the alcoholic group(n=3, 13.6%) and those with biliary tract disease(n=2, 6.67%), whereas morbidity of the alcoholic group(n=12, 40%) was found higher than the idiopathic group(n=8, 33.3%) and biliary disease group(n=4, 18.1%). Mortality rate in patients with pseudocyst was 10%, 50% in pancreatic abscess, 42.8% in circulatory failure patients, 50% in renal failure patients and 75% in respiratory failure patients. Conclusion: Despite earlier recognition and appropriate care the morbidity and mortality rates have remained quite high in cases of severe attack of acute pancreatitis

Early visual processing and adaptation as markers of disease, not vulnerability: EEG evidence from 22q11.2 deletion syndrome, a population at high risk for schizophrenia

We investigated visual processing and adaptation in 22q11.2 deletion syndrome (22q11.2DS), a condition characterized by an increased risk for schizophrenia. Visual processing differences have been described in schizophrenia but remain understudied early in the disease course. Electrophysiology was recorded during a visual adaptation task with different interstimulus intervals to investigate visual processing and adaptation in 22q11.2DS (with (22q+) and without (22q−) psychotic symptoms), compared to control and idiopathic schizophrenia groups. Analyses focused on early windows of visual processing. While increased amplitudes were observed in 22q11.2DS in an earlier time window (90–140 ms), decreased responses were seen later (165–205 ms) in schizophrenia and 22q+. 22q11.2DS, and particularly 22q−, presented increased adaptation effects. We argue that while amplitude and adaptation in the earlier time window may reflect specific neurogenetic aspects associated with a deletion in chromosome 22, amplitude in the later window may be a marker of the presence of psychosis and/or of its chronicity/severity.

Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature.

Objective: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy.Materials and Methods: Children with idiopathic isolated growth hormone deficiency (n = 39) and with idiopathic short stature (n = 10) and 50 control subjects were evaluated for anthropometric parameters, annual growth velocity, and annual height gain. Growth hormone receptor gene polymorphisms were analyzed via multiplex polymerase chain reaction; growth hormone 1 gene polymorphism was analyzed via polymerase chain reaction and single-strand conformation polymorphism techniques.Results: The frequency of genotypes carrying the “A” allele was not significantly higher in the idiopathic isolated growth hormone deficiency group than in the idiopathic short stature and control groups (P = .03 for each). The exon 3 deleted variant genotype was significantly lower in the idiopathic short stature group compared to the control group (P = .01). There was no effect of exon 3 deleted variant, on response to the first-year growth hormone therapy.Conclusion: In Turkish population, no correlation was found between the “A” allele of GH1IVS4+90A>T polymorphism and idiopathic isolated growth hormone deficiency and short stature, and a significant negative correlation was found between exon 3 deleted variant and idiopathic short stature and short stature. Exon 3 deleted variant has no effect on response to growth hormone treatment.

Analysis of clinical features and etiological diagnostic indices of reproductive age women with hyperandrogenism

Objective: To investigate the clinical features and the value of different diagnostic indices for etiology in reproductive age women with hyperandrogenism. Methods: The medical records of 96 reproductive age women with hyperandrogenism in the multi-disciplinary team of Peking University First Hospital from January 2020 to April 2021 were collected. The patients were divided into four groups based on final diagnosis: congenital adrenal hyperplasia (CAH) (n=8), polycystic ovary syndrome (PCOS) (n=67), idiopathic hyperandrogenism (n=13) and other specific diseases (n=8), respectively. The indices related to androgens in different groups were compared, and then their efficiency for diagnosis of CAH and PCOS were analyzed with receiver operator characteristic curve (ROC curve). Results: A total of 96 patients with hyperandrogenism were recruited, with the age of 19-45 (29±6) years old. Overall, 4.2% (4/96) of the patients were with single clinical hyperandrogenism, 56.3% (54/96) were with single laboratory hyperandrogenaemia and 39.6% (38/96) were with both. The breakdown into laboratory hyperandrogenaemia subtypes was as follows: only T elevation 22.8% (21/92), only A2 elevation 7.6% (7/92), none DHEAS elevation, only FAI elevation 5.4% (5/92) and elevation of more than one of the androgen indices mentioned above accounted for 64.1% (59/92). In the reasons of consultation, simple irregular menstruation (36.0%, 32/89) or accompanied by clinical hyperandrogenism with or without infertility (36.0%, 32/89) were the most common. As for primary visiting departments, Obstetrics and Gynecology accounted for 53.2% (51/96), and then Endocrinology as 39.5% (38/96). The 17-OHP level of CAH, PCOS and idiopathic hyperandrogenism group was 20.0 (8.2, 33.1), 1.1 (0.8, 1.4), 0.9 (0.8, 1.3) ng/ml, respectively. The androstenedione level in these groups was 6.3 (4.6, 8.7), 3.8 (2.9, 4.8) and 3.2 (2.7, 3.7) ng/ml, respectively. The 17-OHP and androstenedione levels of CAH group were significantly higher than that in PCOS or idiopathic hyperandrogenism group (all P<0.05). The ratio of LH and FSH in these three groups was 0.8(0.5, 1.0), 1.3(0.6, 1.9) and 0.6(0.3, 0.7), respectively. The ratio of LH and FSH was significantly higher in PCOS than that in idiopathic hyperandrogenism group (P=0.024), but yet there was no significant difference compared with CAH group (P>0.05). The AUC of ROC curve of 17-OHP for CAH diagnosis was 0.94, followed by androstenedione 0.83, whereas LH/FSH for PCOS diagnosis was only 0.63. Conclusions: Among the reasons of consultation in reproductive age women who visited our multi-disciplinary team for female hyperandrogenism, simple irregular menstruation or accompanied by clinical hyperandrogenism with or without infertility are the most common. PCOS accounts for the majority of different androgen excess disorders. 17-OHP is the most valuable parameter for the diagnosis of CAH and secondly androstenedione.

Comparative analysis of LVAD patients in regard of ischaemic or idiopathic cardiomyopathy: A propensity-score analysis of EUROMACS data.

Despite recent advances in management of patients with advanced heart failure, mortality remains high. Aim of this study was to compare impact of different aetiology of ischaemic and idiopathic cardiomyopathy on early outcomes and long-term survival of patients after left ventricular assist device implantation. European Registry for Patients with Mechanical Circulatory Support (EUROMACS) gathers clinical data and follow-up parameters of LVAD recipients. Patients enrolled in the EUROMACS registry with primary diagnosis of either ischaemic (n = 1190) or idiopathic (n = 812) cardiomyopathy were included. Primary Endpoints were early mortality as well as long-term survival. Secondary endpoint were major postoperative adverse events, such as need for rethoracotomy. Additionally, a propensity-score matching analysis was performed for patients with ischaemic (n = 509) and idiopathic (n = 509) cardiomyopathy. In terms of basic demographics and baseline parameters the two groups significantly differed as expected before propensity-score matching due to different aetiology of cardiomyopathy. Seven-day (52 (4.4%) versus 18 (2.2%); p = 0.009), 30-day (153 (12.9%) versus 73 (9.0%); p = 0.008) and in-hospital mortality (253 (19.7%) versus 123 (15.1%); p = 0.009) were significantly lower in the idiopathic cardiomyopathy group compared to the ischaemic cardiomyopathy group, whereas after propensity-score matching 30-day (p = 0.169) was comparable and in-hospital mortality (p = 0.051) was almost significant. Kaplan-Meier survival analysis revealed no significant difference in regard of long-term survival after propensity-score matching (Breslow-test p = 0.161 and LogRank-test p = 0.113). Though patients with ischaemic and idiopathic cardiomyopathy suffer from different cardiomyopathy aetiologies, 30-day-mortality and long-term survival of both groups were similar leading to the conclusion that covariates predominately influence mortality and survival of ischaemic and idiopathic cardiomyopathies.

Idiopathic Nonlupus Full-House Nephropathy: Clinicopathological Presentation and Comparison with Lupus Full-House Nephropathy.

Full-house pattern on immunofluorescence (IF) on kidney biopsy in a patient without systemic lupus erythematosus is termed as nonlupus full-house nephropathy (FHN). In this study, we retrospectively compiled patients with nonlupus FHN and compared them with lupus FHN for clinicopathological presentation. We included patients with full-house IF patterns in renal biopsies collected from March 2007 to August 2018, clinical and histopathological data at the time of presentation were studied retrospectively. Treatment received and outcome at the end of follow-up was studied. Patients with nonlupus FHN who did not show any systemic disease (idiopathic group) were compared with a group of lupus nephritis patients. Of 178 patients, 34 had nonlupus FHN with 21 having idiopathic nonlupus FHN and 13 patients having secondary nonlupus FHN (membranous nephropathy, IgA nephropathy, postinfection glomerulonephritis). Males were more often in idiopathic nonlupus FHN patients than lupus FHN patients (P = 0.005). Kidney biopsies more often showed a mesangial (P = 0.0006) and less proliferative pattern of injury (P = 0.0002) and less intense C1q staining (P = 0.0001) in idiopathic nonlupus than lupus FHN. Clinically, idiopathic nonlupus FHN presented with more proteinuria (P = 0.0059) and less complement consumption (P = 0.001) than lupus FHN patients. Compared to lupus FHN, nonlupus has mainly nephrotic syndrome as clinical presentation. There was no difference in the clinical outcome between lupus FHN and idiopathic nonlupus FHN. Nonlupus FHN is not a very common condition and has less female involvement than in lupus FHN. Idiopathic nonlupus FHN has certain histopathological features with less C1q staining by IF, less frequent proliferative lesions and higher mesangial or membranous lesions by light microscopy compared to lupus FHN. Regarding outcomes, there is no significant difference between lupus FHN and idiopathic nonlupus FHN.

Cytokines, chemokines and growth factors profile in human aqueous humor in idiopathic uveitis.

To investigate which cytokines, chemokines and growth factors are involved in the immunopathogenesis of idiopathic uveitis, and whether cytokine profiles are associated with. Serum and aqueous humor (AH) samples of 75 patients with idiopathic uveitis were analyzed by multiplex immunoassay. Infectious controls consisted of 16 patients with ocular toxoplasmosis all confirmed by intraocular fluid analyses. Noninfectious controls consisted of 7 patients with Behçet disease related uveitis and 15 patients with sarcoidosis related uveitis. The control group consisted of AH and serum samples from 47 noninflammatory control patients with age-related cataract. In each sample, 27 immune mediators ± IL-21 and IL-23 were measured. In idiopathic uveitis, 13 of the 29 mediators, including most proinflammatory and vascular mediators such as IL-6, IL-8, IL-12, G-CSF, GM-CSF, MCP-1, IP-10, TNF-α and VEGF, were significantly elevated in the aqueous humor when compared to all controls. Moreover, IL-17, IP-10, and IL-21, were significantly elevated in the serum when compared to all controls. We clustered 4 subgroups of idiopathic uveitis using a statistical analysis of hierarchical unsupervised classification, characterized by the order of magnitude of concentrations of intraocular cytokines. The pathogenesis of idiopathic uveitis is characterized by the presence of predominantly proinflammatory cytokines and chemokines and vascular endothelial growth factor with high expression levels as compared to other causes of uveitis. There are indications for obvious Th-1/ IL21-Th17 pathways but also IL9-Th9 and increased IFN-γ-inducing cytokine (IL12) and IFN-γ-inducible CXC chemokine (IP-10). The combined data suggest that immune mediator expression is different among idiopathic uveitis. This study suggests various clusters among the idiopathic uveitis group rather than one specific uveitis entity.

Comparison of surgical outcomes after removal of epiretinal membrane associated with retinal break and idiopathic epiretinal membrane.

To compare the surgical outcomes of epiretinal membranes (ERMs) associated with retinal break and idiopathic ERMs. This retrospective study included patients with an idiopathic ERM or an ERM associated with retinal break, who were followed up for ≥ 6months after ERM removal. The postoperative functional and anatomical outcomes were compared between the groups. A total of 160 and 38 eyes (198 patients) were in the idiopathic and retinal break groups, respectively. There was no significant difference in the baseline anatomical and functional parameters between the groups. At 6months after surgery and at the final follow-up, best-corrected visual acuity, central foveal thickness, and ectopic inner foveal layer improved significantly in both groups, but there was no significant difference between the groups. In latter 49.0% of patients, tests for metamorphopsia and aniseikonia were performed. There was a significant improvement in the scores of metamorphopsia (0.40 ± 0.38 to 0.27 ± 0.28; p < 0.001) and aniseikonia (6.07 ± 4.46 to 4.11 ± 3.52; p < 0.001) in the idiopathic group at 6months after surgery, but not in the retinal break group. The idiopathic group had significantly greater circularity of ERM extent compared to the retinal break group (p = 0.025). Visual and anatomical improvements after removal of ERMs associated with retinal break and idiopathic ERMs were comparable. However, metamorphopsia and aniseikonia improved only after removal of idiopathic ERMs.

A survey of patients with laryngotracheal stenosis on future clinical trial design.

Laryngotracheal stenosis is a rare but devastating proximal airway fibrosis that restricts a patient's ability to breathe. Treatment is primarily surgical and to date, there has never been a multi-institutional, randomized, prospective, and interventional clinical trial for a medical therapy to treat laryngotracheal stenosis. Therefore, we aimed to obtain patient feedback to guide successful trial design, recruitment, retention, and for identifying potential barriers to study participation. Over 1000 members of an international laryngotracheal stenosis online support community (the Living with Idiopathic Subglottic Stenosis Facebook group) were sent two questionnaires for a proposed interventional double-blinded, randomized, placebo-controlled clinical trial. A total of 317 and 558 participants responded to the first and second surveys, respectively. The majority of participants (77%) were willing to consider enrollment, regardless of having a 50% chance of receiving placebo versus treatment (78%). The majority (84%) of participants were willing to travel 200 miles to participate for up to six in-person visits over 50 days. Specific side effects, including anemia/thrombocytopenia (72%) or risk of infection (69.3%) had the greatest impact on clinical trial participation with other side effects (peripheral edema (53%), oral ulcers (51%), and gastrointestinal side effects (41%)) having less impact. Patients with laryngotracheal stenosis possess nuanced insight into their disease and treatment options. As a group, they are extremely motivated for better therapies. Future laryngotracheal stenosis clinical trials should focus on providing excellent side effect -related education and utilizing feedback from online advocacy groups to optimize recruitment and retention.

The response patterns of infantile spasms to treatments in 156 patients: Hormonal therapy with intravenous synthetic ACTH appears promising.

Objectives:To report the efficacy of intravenous (IV) synthetic ACTH (Tetracosactide) in the treatment of infantile spasms.Methods:This is a retrospective chart review of patients with a diagnosis of infantile spasms conducted at the Pediatric Department of King Abdulaziz Medical City (KAMC) in Riyadh, Saudi Arabia, from 01-01-2005 to 31-12-2019.Results:Of the 156 cases, 141 were treated initially with vigabatrin (VGB) with a complete response seen in 42(30%). Synthetic ACTH (Tetracosactide) IV injections were used in a total of 52 cases with response in 25(48%). Of the 35 cases which initially failed with VGB, 20(57%) responded to synthetic ACTH. The injections were used as a first line in 8 cases with response in 6(75%). The response to oral steroids was seen in 4/14(29%) cases. A relapse was seen in 2/42(5%) of patients treated with VGB and in 5/25(20%) of those who were treated with synthetic ACTH. The response was highest in the idiopathic group with 7/7(100%). Epilepsy at 2 years was seen in 26/50(52%) and 50/57(88%) of the responders and non-responders, respectively (p=0.000). Only 14/156(9%) of cases had a fair neurological outcome. All of them were from the responder groupConclusion:The response to VGB is suboptimal, while the response to synthetic ACTH is encouraging making it a good alternative for natural ACTH as a potential first line therapy in infantile spasms.

The state of physical functionning of patients with juvenile idiopathic arthritis in the assessment of quality of life

Summary. Juvenile idiopathic arthritis is a severe chronic childhood disease that affects not only the joints but is also accompanied by various comorbid conditions, among which eye damage (uveitis) is the most common. In addition to a significant impact on the general condition of the child, this disease also affects the main indicators of quality of life: physical activity, emotional activity, activity in educational institutions, and the social sphere. During the period of active study of Juvenile idiopathic arthritis patients quality of life, a decrease in its overall level is noted due to almost all components, but physical activity shows the lowest values in some studies, which is associated with joint damage, activity, and duration of the disease. Objective. To determine the state of physical functioning and assess the overall level of quality of life in patients with JIA, considering the subtype of the disease duration and the therapy complex. Materials and Methods. The study was carried out at SI "Institute for Children and Adolescents Health Care of the NAMS of Ukraine", Kharkiv, from November 2020 till November 2021. There 118 patients with juvenile idiopathic arthritis were examined, including 47 with polyarticular, 43 with oligoarticular, 28 with uveitis-associated subtypes. The investigation involved 77 girls and 41 boys in age from 2 till 18 years old. The therapy by methotrexate was provided in 111 patients, among them 30 had methotrexate with immunobiological therapy (29 adalimumab, 1 – tocilizumab), 6 – sulfasalazine. The disease duration due to disease subtype was in children with polyarthritis – (49,2±6,7), oligoarthritis – (35,4±4,2), uveitis-associated subtypes of juvenile idiopathic arthritis – (76,8±10,2) months. Disease activity was assessed using the Juvenile Arthritis Disease Activity Score 27-joint reduced count questionnaire, functional state according to he Child Health Assessment Questionnaire and quality of life according to PedsQLTM 4.0 Generic Core Scales. Results. It was found that high juvenile idiopathic arthritis activity was observed in 31 (26.2%) patients, equally often in all subgroups of children. Index functional state did not show a significant decrease either in the whole group or in each of the arthritis subgroups. The overall indicator of quality of life in children with juvenile idiopathic arthritis was reduced in the whole group (71.2±1.4 and 72.9±1.4 per week and month). There was no significant difference between the quality of life indicators of boys and girls. at the same time, physical activity indicators were the lowest in the group with polyarticular juvenile idiopathic arthritis, regardless of gender and age of children, and especially low in children with polyarthritis in the first year of the disease. They also turned out to be worse in children with uveitis-associated subtypes of juvenile idiopathic arthritis with the disease from one to three years. The highest level of the physical component of quality of life was observed in children with oligoarthritis older than 14 years and in children under 8 years of age in the uveitis-associated subtypes of juvenile idiopathic arthritis group. There was no significant effect on the physical indicators of quality of life of the start treatment timing. (р≤0,05). Conclusions. A decrease in quality of life and its physical component is typical for children with different types of juvenile idiopathic arthriti (oligoarticular, polyarticular, and uveitis-associated subtypes of juvenile idiopathic arthritis). It has been established that children with polyarticular subtype of arthritis have the greatest decrease in quality of life and physical functioning.

Computed tomography findings of isolated peripheral pulmonary artery aneurysms

Background: In this study, we aimed to evaluate computed tomography(CT) findings of peripheral pulmonary artery aneurysms(PPAA) associated with Behcet Disease(BD), Hughes Stovin Syndrome(HSS), and idiopathic origin. Methods: Contrast-enhanced CT scans of the patients were retrospectively reviewed regarding PPAA. The patients with PPA were classified into BD, HSS, and idiopathic groups according to the etiology. The groups were compared for demographical features including age and gender, multiplicity, distribution thrombosis and accompanying pulmonary artery embolism(PAE), and deep venous thrombosis(DVT) history. Results: A total of 30 PPAA (25.4±13.4 (11-62) mm) were detected in 10(2.3%) (mean age 39.8±22-1.0[8-73] years, female/male:3/7) among 4391 patients reviewed. In 7 patients multiple aneurysms were detected while in 3 a solitary lesion was seen. Most commonly lower lobes (right 8-left 8, 53.2%) involvement was observed. A thrombosis was detected within 19(63.4%) aneurysms. Among 10 patients with PPAA 4(40%) ones have BD, 2(20%) HS and 4(40%) idiopathic origin. In 5(50.%) patients there was accompanying PAE and 3 (30%) DVT history. Patients with BD nad HSS tended to have multiple lesions than with idiopathic origin. Accompanying PAE was observed in 2(100%) of HSS, 2(50%) BD, and 1(25%) patient in the idiopathic group. A DVT history was recorded in 2(100%) of HSS, 1(25%) BD. None of in the idiopathic group had a DVT history. The only rupture was observed in the HSS group. Conclusion: Vasculitic diseases lead to PPAA, including BD and HSS are more likely to be associated with complications and additional morbid conditions than idiopathic processes.

Clinical analysis of hypereosinophilic syndrome first presenting with asthma-like symptoms

Introduction Clinical manifestations of hypereosinophilic syndrome (HES) are diverse. This study aimed to summarise these clinical characteristics with asthma-like onset as the first symptom, and compare these characteristics and treatment strategies between idiopathic and parasitic HES. Materials and methods We retrospectively analysed 36 HES patients with asthma-like symptoms as the first episode, between January 2013 and October 2019. Data of patients with HES of an unknown cause (idiopathic HES) and parasitic infection (parasite HES) were analysed. Results The idiopathic and parasite HES groups included 16 and 20 patients, respectively, with more males in the parasite HES group (p < .05). Wheezing and dry rales was the most common symptom and signs, with no significant differences in symptoms and signs between the groups. The most often misdiagnosed disease was bronchial asthma. The peripheral blood eosinophil count was significantly increased compared with normal counts in both groups (p > .05). Abnormal pulmonary function is mainly manifested as obstructive ventilatory disorder and mixed ventilatory disorder. Chest computed tomography showed extensive ground-glass exudation, patches, consolidation, nodules, and pleural effusion. Histopathological examination showed eosinophilic infiltration without vasculitis or granuloma. Glucocorticoids had a significant therapeutic effect, and the parasite HES group required combined deworming drugs. The duration of corticosteroids therapy in the idiopathic HES group was significantly longer than that in the parasite HES group (p < .05). The overall prognosis was good, and 81.25% of the patients were clinically cured in the parasite HES group; however, relapse occurred easily in the idiopathic HES group. Conclusions Asthma-like symptoms, obstructive ventilatory disorder or positive bronchial dilation test, and poor response to inhaled corticosteroids are not necessarily indicative of refractory asthma; HES should be considered. The clinical characteristics of HES of different aetiologies are similar. Systemic corticosteroid therapy is preferred for idiopathic and parasitic infections. Idiopathic HES is treated with prolonged corticosteroids and relapses easily. Key Messages Asthma-like symptoms, obstructive ventilatory disorder or positive bronchial dilation tests, and poor responses to inhaled corticosteroids are not necessarily indicative of refractory asthma, and hypereosinophilic syndrome should be considered. The clinical characteristics of hypereosinophilic syndrome of different aetiologies are similar, and systemic glucocorticoid therapy is preferred for both idiopathic and parasitic infections. Idiopathic hypereosinophilic syndrome is treated with prolonged corticosteroids and relapses easily.

Non-obstructive idiopathic azoospermia vs azoospermia with antecedents of cryptorchidism: ways and probabilities of becoming parents

BackgroundNon-obstructive azoospermia (NOA) with history of cryptorchidism and idiopathic NOA are the most common forms of NOA without genetic aetiology. Of all patients with one of these two types of NOA, only a few will have a positive TEsticular Sperm Extraction (TESE). Of those with positive extraction followed by sperm freezing, not all will have a child after TESE-ICSI. What are the ways and probabilities of taking home a baby for patients with NOA and a history of cryptorchidism compared with patients with idiopathic NOA?ResultsPatients with idiopathic NOA or NOA and a history of cryptorchidism who underwent their first TESE were included. The patients were divided into two groups: Group 1 was composed of 125 patients with idiopathic NOA and Group 2 of 55 patients with NOA and a history of surgically treated cryptorchidism. Our results showed that more than half of the NOA patients succeeded in becoming parents. The main way to fulfil their plans for parenthood is to use sperm or embryo donation (72%) for men with idiopathic NOA, whereas the majority of men with NOA and a history of cryptorchidism had a child after TESE-ICSI (58.8%).ConclusionsIn our centre, before considering TESE for a patient with NOA, we explain systematically TESE-ICSI alternatives (sperm donation, embryo donation or adoption). As a result, the couple can consider each solution to become parents.

Deep Brain Stimulation Treating Dystonia: A Systematic Review of Targets, Body Distributions and Etiology Classifications.

Background: Deep brain stimulation (DBS) is a typical intervention treating drug-refractory dystonia. Currently, the selection of the better target, the GPi or STN, is debatable. The outcomes of DBS treating dystonia classified by body distribution and etiology is also a popular question.Objective: To comprehensively compare the efficacy, quality of life, mood, and adverse effects (AEs) of GPi-DBS vs. STN-DBS in dystonia as well as in specific types of dystonia classified by body distribution and etiology.Methods: PubMed, Embase, the Cochrane Library, and Google Scholar were searched to identify studies of GPi-DBS and STN-DBS in populations with dystonia. The efficacy, quality of life, mood, and adverse effects were quantitatively compared. Meta-regression analyses were also performed. This analysis has been registered in PROSPERO under the number CRD42020146145.Results: Thirty five studies were included in the main analysis, in which 319 patients underwent GPI-DBS and 113 patients underwent STN-DBS. The average follow-up duration was 12.48 months (range, 3–49 months). The GPI and STN groups were equivalent in terms of efficacy, quality of life, mood, and occurrence of AEs. The focal group demonstrated significantly better disability symptom improvement (P = 0.012) than the segmental and generalized groups but showed less SF-36 enhancement than the segmental group (P < 0.001). The primary groups exhibited significantly better movement and disability symptom improvements than the secondary non-hereditary group (P < 0.005), which demonstrated only disability symptom improvement compared with the secondary hereditary group (P < 0.005). The primary hereditary and idiopathic groups had a significantly lower frequency of AEs than the secondary non-hereditary group (P < 0.005). The correlation between disability symptom improvement and movement symptom improvement was also significant (P < 0.05).Conclusion: GPi-DBS and STN-DBS were both safe and resulted in excellent improvement in efficacy and quality of life in patients with dystonia. Compared with patients with segmental dystonia, patients with focal dystonia demonstrated better improvement in dystonia symptoms but less enhancement of quality of life. Those with primary dystonia had a better response to DBS in terms of efficacy than those with secondary dystonia. Patients who exhibit a significant improvement in movement symptoms might also exhibit excellent improvement in disability symptoms.

Idiopathic Intracranial Hypertension is Associated with a Higher Burden of Visible Cerebral Perivascular Spaces: The Glymphatic Connection.

Research suggests a connection between idiopathic intracranial hypertension and the cerebral glymphatic system. We hypothesized that visible dilated perivascular spaces, possible glymphatic pathways, would be more prevalent in patients with idiopathic intracranial hypertension. This prevalence could provide a biomarker and add evidence to the glymphatic connection in the pathogenesis of idiopathic intracranial hypertension. We evaluated 36 adult (older than 21 years of age) patients with idiopathic intracranial hypertension and 19 controls, 21-69 years of age, who underwent a standardized MR imaging protocol that included high-resolution precontrast T2- and T1-weighted images. All patients had complete neuro-ophthalmic examinations for papilledema. The number of visible perivascular spaces was evaluated using a comprehensive 4-point qualitative rating scale, which graded the number of visible perivascular spaces in the centrum semiovale and basal ganglia; a 2-point scale was used for the midbrain. Readers were blinded to patient diagnoses. Continuous variables were compared using a Student t test. The mean number of visible perivascular spaces overall was greater in the idiopathic intracranial hypertension group than in controls (4.5 [SD, 1.9] versus 2.9 [SD, 1.9], respectively; P = .004). This finding was significant for centrum semiovale idiopathic intracranial hypertension (2.3 [SD, 1.4] versus controls, 1.3 [SD, 1.1], P = .003) and basal ganglia idiopathic intracranial hypertension (1.7 [SD, 0.6] versus controls, 1.2 [SD, 0.7], P = .009). There was no significant difference in midbrain idiopathic intracranial hypertension (0.5 [SD, 0.5] versus controls, 0.4 [SD, 0.5], P = .47). Idiopathic intracranial hypertension is associated with an increased number of visible intracranial perivascular spaces. This finding provides insight into the pathophysiology of idiopathic intracranial hypertension, suggesting a possible relationship between idiopathic intracranial hypertension and glymphatic dysfunction and providing another useful biomarker for the disease.

Metabolic enzyme gene polymorphisms predict the effects of antioxidant treatment on idiopathic male infertility.

To explore the relationship between genetic polymorphisms of metabolic enzymes such as CYP1A1, CYP2D6, GSTM1, GSTT1, and GSTP1 and idiopathic male infertility. By observing the efficacy of antioxidants in the treatment of idiopathic male infertility, the effect of metabolic enzyme gene polymorphisms on antioxidant therapy in patients with idiopathic male infertility was prospectively studied. This case–control study included 310 men with idiopathic infertility and 170 healthy controls. The cytochrome P450 1A1 (CYP1A1), cytochrome P450 2D6 (CYP2D6), glutathione S-transferase M1 (GSTM1), glutathione S-transferase T1 (GSTT1), and glutathione S-transferase P1 (GSTP1) genotypes in peripheral blood samples were analyzed by polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP). The idiopathic male infertility group was treated with vitamin C, vitamin E, and coenzyme Q10 for 3 months and followed up for 6 months. GSTM1(−), GSTT1(−), and GSTM1/T1(−/−) in the idiopathic male infertility groups were more common than those in the control group. The sperm concentration, motility, viability, mitochondrial membrane potential (MMP), and seminal plasma total antioxidant capacity (T-AOC) level in patients with GSTM1(−), GSTT1(−), and GSTM1/T1(−/−) were lower than those in wild-type carriers, and the sperm DNA fragmentation index (DFI), 8-hydroxy-2’-deoxyguanosine (8-OH-dG), and malondialdehyde (MDA) and nitric oxide (NO) levels were higher. Therefore, oxidative damage may play an important role in the occurrence and development of idiopathic male infertility, but antioxidant therapy is not effective in male infertility patients with GSTM1 and GSTT1 gene deletions.

Синдром Веста: клінічні, нейровізуалізаційні симптоми та показники розвитку

Актуальність. Синдром Веста характеризується картиною гіпсаритмії на електроенцефалографії, судомами спазмового типу і тріадою психомоторної регресії. Метою цього дослідження було визначення демографічних характеристик, клінічних та лабораторних показників, відповіді на лікування, впливу на формування нервової системи та факторів ризику, що розвинулися протягом тривалого спостереження пацієнтів із діагнозом синдрому Веста. Матеріали та методи. У дослідження були включені пацієнти, у яких був діагностований синдром Веста в період з липня 2011 року по грудень 2012 року на кафедрі дитячої неврології університету Ататюрка. З анамнезу кожного пацієнта були зібрані наступні дані. Були розглянуті показники загального та неврологічного досліджень, церебральної томографії та електроенцефалографії. Біохімічні аналізи проводилися за результатами лабораторних досліджень. Розвиток кожної дитини оцінювався за допомогою тесту для скринінгу на розвиток Denver 2, тесту для контролю та скринінгу розвитку Ankara. Результати. Співвідношення хлопчиків і дівчаток серед наших пацієнтів становило 2,28 : 1, а середній вік становив 8,62 ± 7,20 місяця (медіана: 8,0). 59 (85,51 %) пацієнтів були в симптоматичній групі й 10 (14,49 %) — у групі з ідіопатичним генезом захворювання. Найбільш частими факторами в симптоматичній групі були вроджені аномалії центральної нервової системи (45,7 %) і гіпоксично-ішемічна енцефалопатія (28,8 %). Спостерігалася вірогідна різниця між ідіопатичною та симптоматичною групами за частотою рецидивів, рентгенологічними даними та прогнозом (р = 0,035/р &lt; 0,001/р &lt; 0,001). Рецидив спостерігався в 43,5 % хворих. Серед пацієнтів, які отримували адренокортикотропний гормон, 83 % особи відповіли на лікування, у 17 % реєстрували резистентні судоми. Статистично значущої різниці між відповідями на лікування адренокортикотропним гормоном та іншими методами лікування не було (р = 0,093). У 46 з 55 дітей (83,6 %) була виявлена затримка розвитку. Висновки. Рання діагностика і лікування, надання належного й зручного лікування при синдромі Веста можуть чинити сприятливий вплив на прогноз залежно від етіології.

Treatment of Early-onset Scoliosis: Similar Outcomes Despite Different Etiologic Subtypes in Traditional Growing Rod Graduates.

It is unclear whether traditional growing rod (TGR) treatment outcomes vary by early-onset scoliosis (EOS) subtype. The goal of this study was to compare radiographic outcomes and complications of TGR treatment by EOS subtype. We queried an international database of EOS patients from 20 centers to identify "graduates" who had (1) undergone primary TGR treatment from 1993 to 2014; (2) completed TGR treatment; and (3) had an uneventful clinical examination within 6 months after completion of TGR treatment with no anticipated further intervention. We included 202 patients in 4 etiologic subgroups: neuromuscular (n=65), syndromic (n=57), idiopathic (n=52), and congenital (n=28). Mean age at surgery was 7.1 years (range, 1.6 to 14.9 y); mean duration of follow-up was 8 years (range, 2 to 18.6 y). The groups did not differ by mean age, body mass index, sex, number of lengthenings, or duration of follow-up. The following preoperative differences were significant: (1) greater mean major curve in the neuromuscular versus idiopathic subgroup; (2) shorter spinal height (T1-S1) in the congenital versus idiopathic subgroup; and (3) smaller proportion of ambulatory patients in the neuromuscular subgroup versus all other subgroups. We found no significant differences among subgroups in mean major curve correction or changes in thoracic height (T1-T12), spinal height, or global kyphosis at any point. Rates of deep surgical site infection, implant-related complications, and neurological complications were not different among subgroups. The medical complication rate was significantly lower in the idiopathic group compared with the other groups. Major curve correction and spinal and thoracic height increases did not differ significantly at any point by EOS subtype. Rates of deep surgical site infection, implant-related complications, and neurological complications did not differ by subtype. Except for the lower rate of medical complications in the idiopathic group, our findings suggest that, after TGR treatment, patients can expect similar outcomes regardless of their EOS subtype. Level III, therapeutic.