Form Of Syndrome Research Articles

Associated Factors with Premenstrual Dysphoric Disorder among Undergraduate Medical Students of a Teaching Hospital

Introduction: Premenstrual Dysphoric Disorder (PMDD) is a severe form of premenstrual syndrome in women which adversely affects social, academic, or work performance. The mechanisms underlying PMDD are still insufficiently known, the findings indicate a multifactorial genesis. Prevalence data of PMDD and its potential associated risk factors is sparse in Nepal. This study aimed to determine the associated factors with PMDD among undergraduate medical students of a teaching hospital in Nepal. Methods: This was a cross sectional study conducted among unmarried female medical students at KIST medical college and teaching hospital from 1st June to 30th July, 2023. Students were assigned from each of the four MBBS years (First, Second, Third, and Final) through random sampling till the desired sample size was achieved. Questionnaires about socio-demographic, menstrual, lifestyle variables and questionnaire for diagnosis of PMDD were administered. PMDD was diagnosed from the Diagnostic and Statistical Manual – fifth edition (DSM-5) of the American Psychiatric Association (APA). Data Analysis was performed using SPSS version 16. Data calculated as frequencies, mean, standard deviation and chi square test, independent t test with p-value of < 0.05 was considered as statistically significant. Results: The prevalence of PMDD according to DSM-V criteria was 41 (36.28%). PMDD was significantly associated with dysmenorrhea (P=0.030) and with intake of caffeinated beverages (P=0.034). Conclusion: PMDD is prevalent among medical students in Nepal. The potential associated risk factors are dysmenorrhea and intake of caffeinated beverages.

Distribution and anthropometric characteristics of Rotterdam criteria-based phenotypic forms of Polycystic ovaries syndrome in Ukraine

ObjectiveTo explore the distribution of Rotterdam-based PCOS phenotypes and their associations with anthropometric parameters predictive of cardiometabolic risks in Ukrainian referral PCOS women. Study designIt was a cross-sectional study conducted by the Ukrainian Society of Gynecological Endocrinology between September 2021 and January 2022 involving 42 clinics in 10 regional centres representing the major geographical parts of Ukraine. Two hundred obstetrician-gynecologists whose practice facilities corresponded to study criteria were committed to entering records of their PCOS patients aged 20–45 years into the uniform data collection forms. The recorded parameters were: PCOS phenotype with the mandatory assessment of biochemical hyperandrogenism, age, BMI, waist circumference, and hyperandrogenism symptoms. Results5254 patients’ records were completed. Phenotype A was the most prevalent – 47.7 %, phenotypes B, C, and D were almost equally distributed in the studied population: 17.6 %, 17.4 %, and 17.3 % respectively. The total prevalence of androgenic phenotypes based on the presence of biochemical hyperandrogenism was 82.7 %. The incidence of obesity and hyperandrogenism symptoms, and mean BMI values were higher in phenotypes A and B compared to C and D. At the same time, the presence of 34.1 % and 46.2 % of normal-weight subjects in phenotypes A and B respectively, supports the fact that the excessive BMI is not a universal characteristic of androgenic phenotypes. In younger age groups, phenotypes C and D demonstrated the predominance of normal weight, but in older subgroups, the situation changed: in the age group of 36–45 y.o. compared to 18–25 y.o., the percentage of overweight and obese subjects for the non-classic phenotypes increased more than for the classic ones: C (OR = 3.91, 95 % CI: 2.41–6.38), D (OR = 4.14, 95 % CI: 2.64–6.52), A (OR = 2.30, 95 % CI:1.72–2.08), and B (OR = 2.56, 95 % CI:1.69–3.89). ConclusionsIn thoroughly assessed Ukrainian referral PCOS population the classic phenotypes prevailed as in other clinical cohorts. The classic phenotypes were characterized by the higher rate of adiposity and severity of clinical hyperandrogenism. At the same time, obese, overweight, and normal-weight subjects were present in all phenotypes, and the risk of obesity in non-classic phenotypes was higher in older age groups.

Hidradenitis Suppurativa: An Understanding of Genetic Factors and Treatment.

Hidradenitis suppurativa (HS), recognized as a chronic and debilitating skin disease, presents significant challenges in both diagnosis and treatment. This review explores the clinical manifestations, genetic landscape, and molecular mechanisms underlying HS. The disease's association with a predisposing genetic background, obesity, smoking, and skin occlusion underscores the complexity of its etiology. Genetic heterogeneity manifests in sporadic, familial, and syndromic forms, with a focus on mutations in the γ-secretase complex genes, particularly NCSTN. The dysregulation of immune mediators, including TNF-α, IL-17, IL-1β, and IL-12/23, plays a crucial role in the chronic inflammatory nature of HS. Recent advancements in genetic research have identified potential therapeutic targets, leading to the development of anti-TNF-α, anti-IL-17, anti-IL-1α, and anti-IL-12/23 therapies and JAK inhibitors. These interventions offer promise in alleviating symptoms and improving the quality of life for HS patients.

A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.

Brachydactyly type E (BDE) is a general term characterized by variable shortening of metacarpals and metatarsals, with phalanges affected frequently. It can occur as an isolated form or part of syndromes and manifest a high degree of phenotypic variability. In this study, we have identified the clinical characteristics and pathogenic causes of a four-generation pedigree with 10 members affected by BDE and short stature. After the informed consent was signed, clinical data and peripheral blood samples were collected from available family members. Karyotype analysis, array-CGH, next-generation sequencing, and Sanger sequencing were employed to identity the pathogenic candidate gene. No translocation or microdeletion/duplication was found in karyotype analysis and array-CGH; hence, a novel heterozygous mutation, c.146dupA. p.S50Vfs*22, was detected by next-generation sequencing in PTHLH gene, leading to a premature stop codon. Subsequently, the mutation was confirmed by Sanger sequencing and co-segregation analysis. In this study, we described a novel heterozygous mutation (c.146dupA. p.S50Vfs*22) of gene PTHLH in a Chinese family. The mutation could induce a premature stop codon leading to a truncation of the protein. Our study broadened the mutation spectrum of PTHLH in BDE.

ADRENOGENITAL SYNDROME IN WOMEN: CLASSIC FORM, CLINICAL CASE

The development of adrenogenital syndrome is due to a defect in the CYP21 gene,which encodes the enzyme 21-hydroxylase, involved in the synthesis of cortisol. Theseprocesses are accompanied by an increase in the production of ACTH and an increase incortisol precursors, which are converted into androgens of the adrenal glands – a classicadrenogenital syndrome develops. With CYP21 gene point defect, an incomplete block ofthe enzyme 21-hydroxylase occurs, which leads to a mild violation of the steroidogenesisof the adrenal glands – a non-classical form of adrenogenital syndrome develops. A caseof the classic form of the disease, which manifested itself as infertility, is given.

Mosaic Form of Turner Syndrome

Objective: To report a case of breast growth disorder in a mosaic form of Turner Syndrome. Turner syndrome is a chromosomal condition characterized by small height and primary ovarian insufficiency that affects one in every 2500 female births. Mosaicism is likely to occur when monosomy X develops in only a few cells during development. The clinical presentation of Turner syndrome mosaicism is atypical, with symptom severity varying based on the number of affected cells. This case discusses issues with secondary sex development, including mild hyperandrogenism, and explores how combination hormonal treatment can aid in enhancing secondary sex development.
 Method: Case Report.
 Case: A 21-year-old woman presented with chief complaint of the lack of breast enlargement. She exhibited normal genitalia internally and externally and had a regular menstrual cycle. Karyotyping revealed a mosaic pattern of 45, X/46, XX (1 percent/99%) with normal estradiol levels and elevated testosterone levels (indicating mild hyperandrogenism). The patient underwent two cycles of hormone therapy using Ethinyl Estradiol and Drospirenone, resulting in breast growth progression from Tanner stage 1 to Tanner stage 2.
 Conclusion: Mosaicism in Turner syndrome is plausible, and the severity of clinical symptoms correlates with the number of defective chromosomes. The presentation of Turner syndrome mosaicism varies, and therapy should be tailored to address specific symptoms. While breast development is observed in some girls with Turner Syndrome, instances of breast growth disorder may occur, involving estrogen activity and estrogen receptor sensitivity. Although the exact cause of impaired breast growth remains unknown, administering estrogen in such cases can improve secondary sexual characteristics.
 Keywords: mild hyperandrogenism, mosaicism, turner syndrome

Sirenomelia: An anatomical assessment and genetic sex determination of two cases.

The etiology of sirenomelia is currently unknown. Data are limited in comparing external and internal abnormalities using modern imaging technologies and molecular genetic analysis. The purpose of the current study was designed to compare external and internal anatomical defects in two cases of sirenomelia and Potter's sequence. Considered rare, Potter's sequence is a fetal disorder with characteristic features of bilateral renal agenesis, obstructive uropathy, atypical facial appearance, and limb malformations. The internal and external malformations of two term fetuses with sirenomelia and Potter's sequence were compared using assessment of external features, radiography and MRI on internal structures, and molecular genetic studies on sex determination. Data reveal that both fetuses were male and manifested with an overlapping but distinct spectrum of abnormalities. Principal differences were noted in the development of the ears, brain, urogenital system, lower limbs, pelvis, and vertebral column. Defects of the axial mesoderm are likely to underlie the abnormalities seen in both fetuses. The first one, which had only caudal defects, was found to have a spectrum of abnormalities most similar to those associated with more severe forms of the small pelvic outlet syndrome, although the structure and orientation of the sacrum and iliae were different from previously reported cases. The other had both caudal and cranial defects, and was most similar to those described in the axial mesodermal dysplasia syndrome. Defects associated with sirenomelia can be evaluated with standard gross anatomy examination, radiology, MRI, and modified PCR techniques to determine anatomical abnormalities and the sex of preserved specimens, respectively. Evidence indicated that sirenomelia could be developed via various etiologies.

Sex assignment and psychosexual peculiarities of individuals with different forms of androgen insensitivity syndrome: A qualitative study.

A mismatch between chromosomal, gonadal, and phenotypic sexes in individuals with androgen insensitivity syndrome (AIS) creates problems in sex assignment and psychosexual identification. To identify psychosexual and sex assignment peculiarities of individuals with different forms of AIS. In this qualitative study, 41 individuals with AIS aged between 15 and 31 yr who referred to the Universe Center for Reproductive Medicine Tbilisi, Georgia between 2016 and 2021 were studied. All individuals underwent clinical, genealogical, hormonal, ultrasonographic, and cytogenetic examinations. In-depth interviews and medical records assessed psychosexual profiles and sex assignment histories. 32 cases were diagnosed with the complete form of AIS (CAIS), 8 individuals with the partial form (PAIS), and one with a mild form (MAIS). Individuals with CAIS and PAIS were assessed at birth and raised as girls. Individuals with CAIS and female psychosexual disposition were referred to us due to amenorrhea. Adolescent individuals with PAIS assessed as girls referred to us due to masculinization detected in puberty. An individual with MAIS was assessed at birth and raised as a boy with male genitalia. All individuals with AIS had typical hormonal data and sex chromosome complex for men. 20 sexually active individuals with CAIS had penile-vaginal contact with the man. None of the individuals with CAIS and PAIS thought about gender reassignment after being diagnosed, only the individual with MAIS aimed for male-to-female transition. Psychosexual identification remains a significant challenge in AIS management. Detection of female psychosexual disposition in one participant that is unusual to MAIS may be associated with somatic mosaicism of the androgen receptor gene.

Conservative Management of Acute Sports-Related Concussions: A Narrative Review

This review explores the application of the conservative management model for pain to sports-related concussions (SRCs), framing concussions as a distinct form of pain syndrome with a pathophysiological foundation in central sensitization. Drawing parallels with proven pain management models, we underscore the significance of a proactive approach to concussion management. Recognizing concussions as a pain syndrome allows for the tailoring of interventions in alignment with conservative principles. This review first covers the epidemiology and controversies surrounding prolonged concussion recovery and persistent post-concussion symptoms (PPCS). Next, the pathophysiology of concussions is presented within the central sensitization framework, emphasizing the need for early intervention to mitigate the neuroplastic changes that lead to heightened pain sensitivity. Five components of the central sensitization process specific to concussion injuries are highlighted as targets for conservative interventions in the acute period: peripheral sensitization, cerebral metabolic dysfunction, neuroinflammation, glymphatic system dysfunction, and pain catastrophizing. These proactive interventions are emphasized as pivotal in accelerating concussion recovery and reducing the risk of prolonged symptoms and PPCS, in line with the philosophy of conservative management.

The value of genome-wide analysis in craniosynostosis.

Background: This study assessed the diagnostic yield of high-throughput sequencing methods in a cohort of craniosynostosis (CS) patients not presenting causal variants identified through previous targeted analysis. Methods: Whole-genome or whole-exome sequencing (WGS/WES) was performed in a cohort of 59 patients (from 57 families) assessed by retrospective phenotyping as having syndromic or nonsyndromic CS. Results: A syndromic form was identified in 51% of the unrelated cases. A genetic cause was identified in 38% of syndromic cases, with novel variants detected in FGFR2 (a rare Alu insertion), TWIST1, TCF12, KIAA0586, HDAC9, FOXP1, and NSD2. Additionally, we report two patients with rare recurrent variants in KAT6A and YY1 as well as two patients with structural genomic aberrations: one with a 22q13 duplication and one with a complex rearrangement involving chromosome 2 (2p25 duplication including SOX11 and deletion of 2q22). Moreover, we identified potentially relevant variants in 87% of the remaining families with no previously detected causal variants, including novel variants in ADAMTSL4, ASH1L, ATRX, C2CD3, CHD5, ERF, H4C5, IFT122, IFT140, KDM6B, KMT2D, LTBP1, MAP3K7, NOTCH2, NSD1, SOS1, SPRY1, POLR2A, PRRX1, RECQL4, TAB2, TAOK1, TET3, TGFBR1, TCF20, and ZBTB20. Conclusion: These results confirm WGS/WES as a powerful diagnostic tool capable of either targeted in silico or broad genomic analysis depending on phenotypic presentation (e.g., classical or unusual forms of syndromic CS).

Complex therapy of the evaporative form of dry eye syndrome in patients after keratorefractive surgery

Introduction. Meibomian gland dysfunction (MGD) is considered as the leading cause of the evaporative dry eye syndrome (DES). At the same time the standard methods of DES treatment often allow to achieve only a short-term effect and the search of alternative methods to achieve remission for a longer period is required.Aim. To evaluate the effectiveness of a combined treatment of DES with MGD using transdermal Intense Pulsed Light (IPL) method combined with preservative-free sodium hyaluronate 0.18% eyedrops.Materials and methods. The study involved 60 patients (120 eyes) after refractive surgery (femtoLASIK) with DES and MGD aged 20 to 40 years with a follow-up period of 3 months. The patients were divided into two groups: main (30 patients) and control (30 patients). Patients of both groups were administered a preservative-free form of 0.18% sodium hyaluronate four times a day for 3 months. All studied patients underwent standard examination methods, indicators of DES were assessed along with an objective valuation of tear film parameters and the meibomian glands condition by mean of digital biomicroscopy using a MediWorks slit lamp before surgery and 7 days, 1, 2 and 3 months after refractive surgery.Results and discussion. A comparative analysis of therapy effectiveness in the main and control groups showed that OSDI scores (ocular surface disease index), non-invasive tear breakup time (NITBUT) and meibomian gland function improved after treatment in both groups, but in the main group (IPL) positive dynamics of indicators were more pronounced with a cumulative increase of effectiveness after subsequent sessions.Conclusion. A course of IPL therapy in combination with a course of sodium hyaluronate 0.18% for dry eye syndrome due to MGD reduces the time, allows for longer-term results of therapy and promotes earlier elimination of discomfort.

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

Albinism is characterized by a variable degree of hypopigmentation affecting the skin and the hair, and causing ophthalmologic abnormalities. Its oculocutaneous, ocular and syndromic forms follow an autosomal or X-linked recessive mode of inheritance, and 22 disease-causing genes are implicated in their development. Our aim was to clarify the genetic background of a Hungarian albinism cohort. Using a 22-gene albinism panel, the genetic background of 11 of the 17 Hungarian patients was elucidated. In patients with unidentified genetic backgrounds (n = 6), whole exome sequencing was performed. Our investigations revealed a novel, previously unreported rare variant (N687S) of the two-pore channel two gene (TPCN2). The N687S variant of the encoded TPC2 protein is carried by a 15-year-old Hungarian male albinism patient and his clinically unaffected mother. Our segregational analysis and in vitro functional experiments suggest that the detected novel rare TPCN2 variant alone is not a disease-causing variant in albinism. Deep genetic analyses of the family revealed that the patient also carries a phenotype-modifying R305W variant of the OCA2 protein, and he is the only family member harboring this genotype. Our results raise the possibility that this digenic combination might contribute to the observed differences between the patient and the mother, and found the genetic background of the disease in his case.

Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence

Fetal akinesia deformation sequence (FADS) represents the severest form of congenital myasthenic syndrome (CMS), a diverse group of inherited disorders characterised by impaired neuromuscular transmission. Most CMS originate from defects in the muscle nicotinic acetylcholine receptor, but the underlying molecular pathogenesis is only poorly understood. Here we show that RNAi-mediated silencing of FADS-related proteins rapsyn and NUP88 in foetal fibroblasts alters organisation of the actin cytoskeleton. We show that fibroblasts from two independent FADS individuals have enhanced and shorter actin stress fibre bundles, alongside with an increased number and size of focal adhesions, with an otherwise normal overall connectivity and integrity of the actin-myosin cytoskeleton network. By proximity ligation assays and bimolecular fluorescence complementation, we show that rapsyn and NUP88 localise nearby adhesion plaques and that they interact with the focal adhesion protein paxillin. Based on these findings we propose that a respective deficiency in rapsyn and NUP88 in FADS alters the regulation of actin dynamics at focal adhesions, and thereby may also plausibly dictate myofibril contraction in skeletal muscle of FADS individuals.

Next Generation Sequencing in presumptive diagnosis of syndromes in childhood retinal dystrophies - case series from India

PurposeChildhood onset retinal dystrophies are heterogeneous group of diseases that include Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa, early onset retinitis pigmentosa (EORP) and Severe Early Childhood Onset Retinal Dystrophy (SECORD) and can present either as an isolated condition or with associated non-ocular features. Genetic testing aids in the differential diagnosis of these conditions, for monitoring and timely management of the systemic manifestations. In this study, we present a case series of childhood onset retinal dystrophies where genetic testing has aided in the diagnosis of syndromic form of inherited retinal degenerations (IRD). MethodsPatients (N = 10) underwent complete ophthalmic examination including slit lamp biomicroscopy and dilated indirect ophthalmoscopy. ERG, fundus photograph and Optical Coherence Tomography was done for all patients if the child cooperated for the same. This was followed by targeted re-sequencing of IRD gene panel, on the Illumina Hiseq 2500 platform. Clinical follow up for other associated systemic features was advised based on the genetic results, for patients who were asymptomatic at the time of genetic diagnosis. The patients were monitored for the same periodically. ResultsMutations were identified in IQCB1, ALMS1, SLC19A2, CNNM4, and VPS13B genes suggested associated syndromes. In all these cases, the ocular phenotype was the first presentation in early infancy and genetic testing for IRD genes suggested syndromic disease. The patients could hence be followed up appropriately for other manifestations. ConclusionsMolecular diagnosis has helped in identifying the associated syndrome in these patients with childhood retinal dystrophies who were asymptomatic for some of the non-ocular features at the time of genetic testing. The patients can be benefitted by frequent clinical surveillance with a scope for effective and timely management of the systemic features wherever applicable.

Use of point-of-care ultrasound (POCUS) to monitor neonatal and pediatric extracorporeal life support.

Extracorporeal membrane oxygenation (ECMO) is an invasive life support technique that requires a blood pump, an artificial membrane lung, and vascular cannulae to drain de-oxygenated blood, remove carbon dioxide, oxygenate, and return it to the patient. ECMO is generally used to provide advanced and prolonged cardiopulmonary support in patients with refractory acute cardiac and/or respiratory failure. After its first use in 1975 to manage a severe form of meconium aspiration syndrome with resultant pulmonary hypertension, the following years were dominated by the use of ECMO to manage neonatal respiratory failure and limited to a few centers across the world. In the 1990s, evidence for neonatal respiratory ECMO support increased; however, the number of cases began to decline with the use of newer pharmacologic therapies (e.g., inhaled nitric oxide, exogenous surfactant, and high-frequency oscillatory ventilation). On the contrary, pediatric ECMO sustained steady growth. Combined advances in ECMO technology and bedside medical management have improved general outcomes, although ECMO-related complications remain challenging. Point-of-care ultrasound (POCUS) is an essential tool to monitor all phases of neonatal and pediatric ECMO: evaluation of ECMO candidacy, ultrasound-guided ECMO cannulation, daily evaluation of heart and lung function and brain perfusion, detection and management of major complications, and weaning from ECMO support. Conclusion: Based on these considerations and on the lack of specific guidelines for the use of POCUS in the neonatal and pediatric ECMO setting, the aim of this paper is to provide a systematic overview for the application of POCUS during ECMO support in these populations. What is Known: • Extracorporeal membrane oxygenation (ECMO) provides advanced cardiopulmonary support for patients with refractory acute cardiac and/or respiratory failure and requires appropriate monitoring. • Point-of-care ultrasound (POCUS) is an accessible and adaptable tool to assess neonatal and pediatric cardiac and/or respiratory failure at bedside. What is New: • In this review, we discussed the use of POCUS to monitor and manage at bedside neonatal and pediatric patients supported with ECMO. • We explored the potential use of POCUS during all phases of ECMO support: pre-ECMO assessment, ECMO candidacy evaluation, daily evaluation of heart, lung and brain function, detection and troubleshooting of major complications, and weaning from ECMO support.

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Introduction: Inherited mitochondrial diseases are the most common group of metabolic disorders caused by a defect in oxidative phosphorylation. They are characterized by a wide clinical and genetic spectrum and can manifest at any age. In this study, we established novel phenotype-genotype correlations between the clinical and molecular features of a cohort of Tunisian patients with mitochondrial diseases. Materials and methods: Whole-exome sequencing was performed on five Tunisian patients with suspected mitochondrial diseases. Then, a combination of filtering and bioinformatics prediction tools was utilized to assess the pathogenicity of genetic variations. Sanger sequencing was subsequently performed to confirm the presence of potential deleterious variants in the patients and verify their segregation within families. Structural modeling was conducted to study the effect of novel variants on the protein structure. Results: We identified two novel homozygous variants in NDUFAF5 (c.827G>C; p.Arg276Pro) and FASTKD2 (c.496_497del; p.Leu166GlufsTer2) associated with a severe clinical form of Leigh and Leigh-like syndromes, respectively. Our results further disclosed two variants unreported in North Africa, in GFM2 (c.569G>A; p.Arg190Gln) and FOXRED1 (c.1261G>A; p.Val421Met) genes, and we described the first case of fumaric aciduria in a Tunisian patient harboring the c.1358T>C; p.Leu453Pro FH variant. Conclusion: Our study expands the mutational and phenotypic spectrum of mitochondrial diseases in Tunisia and highlights the importance of next-generation sequencing to decipher the pathomolecular mechanisms responsible for these disorders in an admixed population.

The utility of biomarkers to predict steroid response in idiopathic nephrotic syndrome

Objective: The most common form of nephrotic syndrome (NS) is minimal change disease (MCD) in children and focal segmental glomerulosclerosis (FSGS) following it. As, it is important to predict corticosteroid (CS) response at the beginning of the disease, we aimed to evaluate the efficacy of some biomarkers in terms of predicting steroid response in patients with NS. Patients and Methods: Twenty patients who met the inclusion criteria for the study were divided into 3 groups and 6 healthy control participants were included in the analysis as the 4th group. Group-1 included 10 patients at the first episode of idiopathic NS (INS), group-2 included the same 10 patients in remission, group-3 included 10 patients with steroid resistant NS (SRNS) diagnosed as FSGS by renal biopsy, and group-4 included six healthy children as controls. Urinary and serum cluster of differentiation (CD) CD80, IL-17, IL-23, IL-10, TGF-β, CD86, CD28, CTLA-4 levels were measured for all groups. Results: Urinary CD80 level in INS-relapse group was significantly higher than the levels of the INS-remission, FSGS and control groups (p

Breast Milk Jaundice

The results of modern studies on breast milk jaundice pathogenesis, that is common form of neonatal jaundice, are presented. The major risk factors and diagnostic methods (excluding other forms of jaundice syndrome at recurrent and lingering jaundice in newborns) were defined. The main therapy approaches for breast milk jaundice were presented. Issues of phototherapy indications were discussed. The feasibility of maintaining breastfeeding in case of breast milk jaundice development was proved. This condition requires the attention of pediatricians despite the relatively favorable course and outcomes. The need to continue studies on pathogenetic therapy of such patients was noted.

Management of anterior ST-elevation myocardial infarction presenting more than 48 hours from symptom onset without reperfusion therapy in the cardiac care unit

ST-elevation myocardial infarction is a form of acute coronary syndrome that is the leading cause of death worldwide. Treatment with reperfusion therapy in the form of primary percutaneous intervention is the main treatment to reduce morbidity and mortality. However, reperfusion therapy is not recommended for patients presenting with symptoms onset of more than 48 hours. A 62-year-old male patient was diagnosed with anterior STEMI with symptoms onset of more than 48 hours based on complaints of anginal chest pain and shortness of breath. ST-segment elevation in V1-V4 and pathological Q in V1-V3 on ECG and increased hs-Troponin I was reported. The patient was not treated with reperfusion therapy based on treatment recommendations. The patient was given vasodilators, beta-blockers, statins, heparinization, and comorbid infection control in the cardiac care ward. Clinical improvement was obtained, and the patient was discharged after seven days of hospitalization and then was planned for Dobutamine Stress Echo during the follow-up visit. Conservative management and viability testing are the main options for patient management in STEMI with symptom onset of more than 48 hours without any complaints of chest pain, stable hemodynamics, and no life-threatening arrhythmia.

Comparison of intradermal and serum testing for environmental allergen-specific immunoglobulin E determination in a laboratory colony of cats with naturally acquired atopic syndrome.

Allergen testing is used to select antigens included in the desensitisation vaccine. Intradermal skin test (IDT) is the gold standard in cats, yet allergen-specific immunoglobulin (Ig)E serological testing (ASIS) is often used. Feline data are lacking regarding the agreement between IDT and ASIS results. The first objective of the study was to establish a colony of cats with naturally acquired feline atopic syndrome (FAS). Further objectives were to define their hypersensitivity disorder to detail the allergen tests results, and to assess similarity between the allergen tests. Thirty-five cats with FAS and 10 control cats. Enrolled cats went through a five phase-screening and quarantine process before joining the colony. An elimination diet trial was performed on all FAS cats. ASIS and IDT were consecutively performed on all cats under sedation. Reactions to 34 allergens were compiled for the 45 cats. Global sensitivity and specificity of ASIS were 34.7% and 78.9%, respectively. Only flea (ICC = 0.26, p = 0.040) and Dermatophagoides pteronyssinus (ICC = 0.48, p < 0.001) allergens had a significant intraclass correlation (weak agreement). Two FAS cats had negative tests including one cat with a concomitant food allergy. This study depicts the first reported colony of cats with naturally acquired FAS. This is the first feline study to compare and show the poor agreement between allergen tests with a panel of 34 allergens. This colony also harbours two cats with FAS with negative allergen tests. These may represent the first described cats with an intrinsic form of atopic syndrome.