Congenital Etiology Research Articles

Pericapsular Nerve Group (PENG) Block in Pediatric Patients Undergoing Hip and Pelvic Surgical Procedures: An Educational Focused Review.

Hip disorders in infants and children may result from congenital, infectious, developmental, inflammatory, neoplastic, and traumatic etiologies. Postoperative pain management associated with hip pathologies can be challenging especially due to complex innervation of the hip and surrounding structures. Given the adverse effect profile of systemic opioids, regional anesthesia offers an excellent alternative with more beneficial adverse effect profile. Various peripheral regional anesthetic techniques have been reported with variable results regarding analgesia and differing adverse effect profiles. The pericapsular nerve group (PENG) block is a novel motor-sparing regional anesthetic technique where the local anesthetic agent is deposited in the musculofascial plane between the psoas tendon and the pubic ramus. The main target is the genicular branches of the femoral, obturator, and accessory obturator nerve, which innervate the hip capsule. The anatomy involved with PENG block is reviewed and previous reports of PENG block in pediatric-aged patients, including single shot or continuous catheter techniques, are reviewed.

Echocardiographic insights redefining risk in pulmonary arterial hypertension: a focus on right atrial volume index for enhanced stratification

Abstract Introduction In Pulmonary arterial hypertension (PAH), the right atrium plays a critical role, and its size, determined by echocardiography, is crucial for risk stratification. Despite this, current guidelines still prioritize right atrial area (RAA) over the right atrial volume index (RAVI). This approach is contrary to the recommendations of international echocardiography societies since 2016, which advocate for the use of RAVI for a more accurate assessment. Purpose Identify the RAVI value corresponding to the RAA, in PAH risk stratification used in the 2022 ESC guidelines. Methods We conducted a retrospective analysis of all consecutive patients of a single-center, since 2002. Patient's echocardiograms were revised for simultaneous assessment of RAA and right atrial volume index (RAVI). Over an average follow-up of 6.7 years (SD 5.9), we recorded a cohort of 82 patients diagnosed with PAH. From this group, we excluded 27 patients with congenital etiologies, 14 due to the insufficient quality of echocardiographic data, and one patient identified as an extreme statistical outlier. A Pearson's correlation analysis was used to access the correlation between RAA and RAVI for PAH diagnosis. Results A total of 40 patients were included with a mean age at diagnosis of 48.85 years (SD 17.82), predominantly female (77.5 %). The most prevalent etiologies were idiopathic (32.5%) and connective tissue disease-associated PAH (27.5%). Clinical presentations included right heart failure signs in 30% of patients, rapid symptom progression in 12.5%, syncope history in 15% and 77.5% in WHO-FC III-IV. Average 6-MWD and NT-proBNP levels were 392,1 m (SD 120,2) and 1636,18 ng/L (SD 2576,14), respectively. Average hemodynamics parameters were right atrial pressure 7,39 mmHg (SD 4,940); cardiac index 2,28 L/min/m2 (SD 2,06); stroke volume index 3,38 mL/m2 (SD 3,92) and mixed venous oxygen saturation 65,68% (SD 10,86). Average echocardiographic parameters were RAA 20,14 cm2 (SD 4,80); TAPSE/sPAP 0,34 mm/mmHg (SD 0,18) and RAVI 37,78 mL/m2 (SD 13,67), with 10% of pericardial effusion. Statistical analysis revealed a strong and significant correlation between RAA and RAVI (r=0.82, 95% CI: 0.69-0.90, p<0.001). The derived linear relationship is expressed as "y=2.8*X -18". Therefore, an RAA value of 18 cm² translates to a RAVI of 32 mL/m², while an RAA of 26 cm² corresponds to a RAVI of 55 mL/m². Conclusion Our study supports a revision in HAP risk assessment guidelines, suggesting a shift to a more comprehensive approach using right atrial volume index (RAVI) measurements. We propose categorizing risk as low for RAVI < 32 mL/m², intermediate for RAVI between 32 and 55 mL/m², and high for RAVI > 55 mL/m². This recommendation aligns with the standards of international societies and is grounded in best clinical practices, considering that indexing measurements of the right atrium to body size potentially offers greater accuracy than absolute values.

Cerebral convexity arachnoid cysts: A focused systematic review with defining characteristics

IntroductionArachnoid cysts are non-neoplastic accumulations of cerebrospinal fluid formed within partitioned layers of the arachnoid mater. They represent about 1% of all intracranial masses in humans. Most arachnoid cysts present in the middle cranial fossa, but few occur along the cerebral convexity. Gross imaging of cerebral convexity arachnoid cysts (CCACs) is extremely scarce. The purpose of this study is to conduct a focused systematic review of CCACs and report their defining clinical characteristics. MethodsA systematic literature review was conducted to compile and summarize primary sources of anatomical and clinical information about CCACs. A large CCAC was discovered and dissected in a human cadaver. The CCAC was photographed in situ, and its impacts on contiguous gyri and sulci were documented and presented as a representative example of a CCAC. ResultsCCAC formation is attributed to congenital (primary) or trauma-related (secondary) etiologies. While they are often asymptomatic, CCAC location and size can influence symptomology. The anticipated increase in intracranial pressure can elicit mild (e.g., headache) to severe (e.g., seizure, hydrocephalus) sequelae. The present study exhibits a remarkably large CCAC that developed within the left central sulcus, displacing the precentral and postcentral gyri. The central sulcus artery and vein were present and appeared unaffected. ConclusionsManagement of CCACs can range from close observation with no intervention in asymptomatic cases to surgical intervention. Typical surgical options include microsurgical fenestration via craniotomy, neuroendoscopic fenestration, and various forms of shunting. The efficacy of one surgical approach over another remains highly debated. As CCACs are mostly diagnosed with CT and/or MRI, gross imaging of CCACs is extremely rare. This study provides clinical anatomists, neurologists, and neurosurgeons with visual insight and perspective into the physical and clinical characteristics of CCACs.

Does Terminology Matter? Perspectives From People With Limb Difference, Clinicians, and Researchers

ObjectiveTo elicit the preferred terminology among people with limb difference as well as health care and/or research professionals. DesignCross-sectional survey. SettingOnline. ParticipantsA convenience sample of N=122 individuals (people with limb difference, n=65; health care and/or research professionals, n=57) completed an online survey. People were included if they (1) were aged ≥18 years; (2) self-identified as having limb difference (regardless of etiology) or as a health care or research professional (with experience working with people with limb difference); and (3) lived in the United States for most of the time in their selected role. InterventionsNot applicable. Main Outcome MeasuresImportance of terminology, preference toward person-first or identity-first terms, preferred terms, and individual perspectives on terminology preferences. ResultsMost participants identified as White (92.6%). Age significantly differed between groups (people with limb difference, 49.9±15.4y; professionals, 41.0±14.3y; P=.001). Approximately 50% of people with limb difference stated terminology was very or extremely important, compared to 70% of professionals (χ2=16.6, P=.002). While 73.7% of professionals reported a preference for person-first terminology, the sample of people with limb difference were more evenly split, as 42.9% reported a preference for identity-first terminology and 50.8% reported a preference for person-first terminology. The most frequently selected limb and population terms, respectively, were residual limb and individual/person with limb difference; however, many people with limb difference indicated they preferred “amputee” when speaking about a population. ConclusionsMost of the participants indicated terminology was very or extremely important, and both groups tended to prefer the terms residual limb (limb term) and individual/person with limb difference (population term). However, this study was not intended to recommend terminology, but rather help inform terminology choices that are centered around people with limb difference. Individuality and context should be considered when deciding terminology. Future studies should include more participants from racially/ethnically minoritized groups and people with limb difference who have dysvascular and/or congenital etiologies.

The european registry for patients with mechanical circulatory support (EUROMACS): fourth paediatric EUROMACS (Paedi-EUROMACS) report.

The use of ventricular assist devices in children is increasing. However, absolute numbers in individual centers and countries remain small. Collaborative efforts such as the Paedi-EUROMACS are therefore essential in order to combine international experience with paediatric ventricular assist devices. In this paper, the results from the fourth Paedi-EUROMACS report are presented. All paediatric (<19 years) patients supported by a ventricular assist device from the EUROMACS database were included. Patients are stratified into a congenital heart disease group and a group with a non-congenital aetiology. Endpoints included mortality, transplantation and recovery. Cox proportional hazard models were used to explore associated factors for mortality, cerebrovascular accident, and pump thrombosis. 590 primary implantations were included. The congenital group was significantly younger (2.5 versus 8.0 years respectively, p < 0.001) and were more commonly supported by a pulsatile flow device (73.5% vs 59.9%, p < 0.001). Mortality was significantly higher in the congenital group (30.8 vs 20.4%; p = 0.009) than in the non-congenital group. However, in multivariable analyses, congenital heart disease was not significantly associated with mortality (HR 1.285, CI 0.8111-2.036, p = 0.740). Pump thrombosis was the most frequently reported adverse event (377 events in 132 patients; 0.925 events per patient-year) and was significantly associated with BSA (HR 0.524 CI 0.333-0.823, p = 0.005), congenital heart disease (HR 1.641 CI 1.054-2.555, p = 0.028) and pulsatile flow support (HR 2.345 CI 1.406-3.910, p = 0.001) in multivariable analyses. This fourth Paedi-EUROMACS report highlights the increasing use of paediatric ventricular assist devices. The patient populations with congenital and non-congenital aetiology exhibit distinct characteristics and clinical outcomes.

Congenital ocular and its adnexal anomalies among Indian pediatric age

An analysis of the congenital etiologies of ocular morbidity in children of age 0-12 years is of interest. Hence, this study was conducted over a period of 2 years from Jan 2021- Dec 2023 at RL Jalappa Hospital and Research center that is attached to Sri Devaraj Urs Medical College, Tamaka, Kolar, Karnataka, India. Out of 56 patients, 57% were male and 43% were female children. 31 (55%) of mothers belonged to age group between 20-30 years and 24 (43%) between 31-40 years and 1(2%) between 41-50 years. Out of 56 patients, 14 (25%) of them had positive family history. 34 (61%) of them had consanguious marriage. 14 parents (41%) out of 34 are married to second degree consanguinity (brother/sister/grandparent/grandchild) and 20 (59%) belonged to third degree consanguinity (aunt/uncle/niece/nephew/great-grandparent/great-grandchild). Bilateral involvement was seen in 31 (55%). Nasolacrimal duct anomalies were found to be the most common (32%) followed by congenital esotropia (14%). Education, awareness, counseling about risks of consanguinity and other risk factors such as maternal age, infections, medications during pregnancy, vaccination must be a routine practice in healthcare set up. This can significantly reduce morbidity and prevent blindness.

Decisional regret and impacts on quality of life following genitourinary reconstruction for neurogenic bladder: A comparison between acquired and congenital spinal cord injury.

Patient expectations and baseline health are important drivers of outcomes following major genitourinary reconstructive surgery for neurogenic bladder (NGB). Differences in expectations and quality of life (QoL) improvements among different populations with NGB remain insufficiently explored in the literature. To compare decisional regret (DR) and urinary-related QoL (UrQoL) in patients undergoing urinary diversion for NGB arising from spinal cord injury of acquired (A-SCI) and congenital (C-SCI) etiologies. We hypothesize that patients with A-SCI have higher expectations of improvement in QoL following surgery when compared with C-SCI, which may lead to higher DR and decreased UrQoL, postoperatively. In this cross-sectional survey study, we compared A-SCI to C-SCI in terms of DR, UrQoL, and postoperative changes in self-reported physical health, mental health, and pain using validated patient-reported outcome measures. Participants were enrolled from a quaternary care institution via mail and MyChart. The A-SCI group consisted of 17 patients with traumatic spinal cord injury; the C-SCI group was composed of 20 patients with spina bifida. Not applicable. The Decisional Regret Scale, Short form- Qualiveen (SF-Qualiveen), and Patient-reported outcomes measurement Information system-10 (PROMIS-10) Global Health surveys. The A-SCI group displayed poorer preoperative physical health than the C-SCI cohort, but absolute postoperative changes in this score, along with mental health score and pain level, were not significant after adjusting for baseline scores and follow-up time. SF-Qualiveen scores revealed significantly worse impact of NGB in UrQoL for A-SCI than for C-SCI when adjusted for other factors. No differences in DR were seen between the groups. Patients with A-SCI demonstrate lower self-reported baseline physical health compared with patients with C-SCI, which may have implications in setting patient expectations when undergoing urinary diversion. In this small cohort, we found a milder self-reported postoperative impact of NGB in UrQoL in patients with C-SCI.

Anomalies of Sexual Differentiation in the Medicine and Endocrinology Department of the Mali Hospital - Bamako

Introduction: Abnormalities of sexual differentiation are conditions due to various congenital or hormonal etiologies. The aim of our study was to describe the clinical aspects of sexual differentiation abnormalities in the department of medicine and endocrinology. Methodology: Our study was retro-prospective and descriptive ranging from September 2011 to July 2021 (i.e. 10 years), carried out in the Medicine and Endocrinology department of the Mali Hospital. Results: Ten patients out of 8213 consultants were collected, representing a hospital frequency of 0.12%. Six (6) of them were of female phenotype, and 2 of male phenotype. The average age was 21.71 years with extremes ranging from 17 days to 46 years. Clinically, patients with a female phenotype presented an anomaly of the external genitalia (5/10), axillary and pubic hypopilosity (6/10), delayed puberty (5/10), primary amenorrhea (5/10), and the presence of a bilateral inguinal mass (2/10). For patients with a male phenotype (2/10); bilateral gynecomastia (2/10), macroskelia (1/10) with wingspan of 197cm, axillary and pubic hypopilosity (1/10), an anomaly of the external genitalia (2/10). Conclusion: anomalies of sexual differentiation, although relatively rare, exist in Mali and throughout the world.

Undiagnosed RASopathies in infertile men.

RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic features, including cryptorchidism (CR) in >50% of affected men. As CR predisposes to spermatogenic failure (SPGF; total sperm count per ejaculate 0-39 million), we hypothesized that men seeking infertility management include cases with undiagnosed RASopathies. Likely pathogenic or pathogenic (LP/P) variants in 22 RASopathy-linked genes were screened in 521 idiopathic SPGF patients (including 155 CR cases) and 323 normozoospermic controls using exome sequencing. All 844 men were recruited to the ESTonian ANDrology (ESTAND) cohort and underwent identical andrological phenotyping. RASopathy-specific variant interpretation guidelines were used for pathogenicity assessment. LP/P variants were identified in PTPN11 (two), SOS1 (three), SOS2 (one), LZTR1 (one), SPRED1 (one), NF1 (one), and MAP2K1 (one). The findings affected six of 155 cases with CR and SPGF, three of 366 men with SPGF only, and one (of 323) normozoospermic subfertile man. The subgroup "CR and SPGF" had over 13-fold enrichment of findings compared to controls (3.9% vs. 0.3%; Fisher's exact test, p = 5.5 × 10-3). All ESTAND subjects with LP/P variants in the Ras/MAPK pathway genes presented congenital genitourinary anomalies, skeletal and joint conditions, and other RASopathy-linked health concerns. Rare forms of malignancies (schwannomatosis and pancreatic and testicular cancer) were reported on four occasions. The Genetics of Male Infertility Initiative (GEMINI) cohort (1,416 SPGF cases and 317 fertile men) was used to validate the outcome. LP/P variants in PTPN11 (three), LZTR1 (three), and MRAS (one) were identified in six SPGF cases (including 4/31 GEMINI cases with CR) and one normozoospermic man. Undiagnosed RASopathies were detected in total for 17 ESTAND and GEMINI subjects, 15 SPGF patients (10 with CR), and two fertile men. Affected RASopathy genes showed high expression in spermatogenic and testicular somatic cells. In conclusion, congenital defects in the Ras/MAPK pathway genes represent a new congenital etiology of syndromic male infertility. Undiagnosed RASopathies were especially enriched among patients with a history of cryptorchidism. Given the relationship between RASopathies and other conditions, infertile men found to have this molecular diagnosis should be evaluated for known RASopathy-linked health concerns, including specific rare malignancies.

Ventricular catheter tissue obstruction and shunt malfunction in 9 hydrocephalus etiologies.

Hydrocephalus is a neurological disorder with an incidence of 80-125 per 100,000 births in the United States. The most common treatment, ventricular shunting, has a failure rate of up to 85% within 10 years of placement. The authors aimed to analyze the association between ventricular catheter (VC) tissue obstructions and shunt malfunction for each hydrocephalus etiology. Patient information was collected from 5 hospitals and entered into a REDCap (Research Electronic Data Capture) database by hydrocephalus etiology. The hardware samples were fixed, and each VC tip drainage hole was classified by tissue obstruction after macroscopic analysis. Shunt malfunction data, including shunt revision rate, time to failure, and age at surgery, were correlated with the degree of tissue obstruction in VCs for each etiology. Posthemorrhagic hydrocephalus was the most common etiology (48.9% of total cases). Proximal catheter obstruction was the most frequent cause of hardware removal (90.4%). Myelomeningocele (44% ± 29%), other congenital etiologies (48% ± 40%), hydrocephalus with brain tumors (45% ± 35%), and posthemorrhagic hydrocephalus (41% ± 35%) showed tissue aggregates in more than 40% of the VC holes. A total of 76.8% of samples removed because of symptoms of obstruction showed cellular or tissue aggregates. No conclusive etiological associations were detected when correlating the percentage of holes with tissue for each VC and age at surgery, shunt revision rates, or time between shunt implantation and removal. The proximal VC obstruction was accompanied by tissue aggregates in 76.8% of cases. However, the presence of tissue in the VC did not seem to be associated with hydrocephalus etiology.

Familial occurrence of seizure disorders across MRI defined structural focal epilepsy etiology

BackgroundPrevious studies have established familial occurrence of epilepsy and seizure disorders and early age of epilepsy onset as predictors of genetic epilepsy, but have not evaluated the rate of their occurrence in patients with different epilepsy etiology. Our study determines the distribution of familial occurrence and age of epilepsy onset across structural focal epilepsy (FE) etiology in a large FE cohort. MethodsRecords of 1354 consecutive patients evaluated for epilepsy and seizure disorders in The Neurology Clinic, University Clinical Center of Serbia from 2008 to 2019 were screened for FE. Structural etiology, lobar diagnosis, familial occurrence, and age at epilepsy onset were determined. Patients with a. nonlesional focal epilepsy (NLFE), b. hippocampal sclerosis (HS) and c. congenital or perinatal etiology (CPE) were classified as NAFE, while patients with an identified acquired focal epilepsy (AFE) constituted the control group. ResultsWe identified 965 patients with FE, 329 (34.1 %) with NLFE, 213 (22.1 %) with HS, 174 (18.0 %) with CPE and 249 (25.8 %) with AFE. Familial occurrence was identified in 160 (16.6 %), 19.1 % of patients with NAFE and 9.2 % of AFE (p = 0.003). Patients with NAFE had a younger age of epilepsy onset (13 vs. 18 years, p < 0.001). The highest proportion of familial occurrence was found in patients with NLFE (23.7 %), while the youngest median age of epilepsy onset was identified in patients with HS (12 years) and CPE (11 years). ConclusionPatients with NAFE frequently have familial occurrence of epilepsy and have an earlier age of epilepsy onset than patients with AFE.

Radiological Outcomes of Magnetically Controlled Growing Rods for the Treatment of Children with Various Etiologies of Early-Onset Scoliosis-A Multicenter Study.

Background: The management of spinal deformities diagnosed before the age of 10 is critical due to the child's development, skeletal system, and growth mechanism. Magnetically controlled growing rods (MCGRs) are a surgical treatment option for the growing spine. The aim of this study was to analyze the radiological findings of patients treated with MCGRs for early-onset scoliosis (EOS) of various etiologies. We hypothesized that the MCGRs could provide acceptable long-term radiographic results, such as an increase in the T1-T12 and T1-S1 height and significant overall deformity correction. Methods: We retrospectively reviewed 161 EOS patients with a combined total of 302 MCGRs inserted at five institutions between 2016 and 2022 with a mean follow-up of at least two years. The Cobb angle of the major curve (MC), thoracic kyphosis (TK), lumbar lordosis (LL), and T1-T12 and T1-S1 height measurements were assessed before, after, and during the follow-up. Results: Among the 90 female and 71 male patients, there were 51 neurological, 42 syndromic, 58 idiopathic, and ten congenital scoliosis etiologies. Of the patients, 73 were aged under six years old. The mean follow-up time was 32.8 months. The mean age at placement of the MCGRs was 7 years and that at the last follow-up after fusion surgery was 14.5 years. The mean MC before the initial surgery was 86.2°; following rod implantation, it was 46.9°, and at the last follow-up visit, it was 45.8°. The mean correction rate among the etiology subgroups was from 43% to 50% at follow-up. The mean TK was noted as 47.2° before MCGR implantation, 47.1° after MCGR placement, and 44.5° at the last follow-up visit. The mean T1-T12 height increased by 5.95 mm per year, with a mean T1-S1 height of 10.1 mm per year. Conclusions: MCGR treatment allowed for an average correction of the curvature by 50% during the period of lengthening, while controlling any deformity and growth of the spine, with a significant increase in the T1-T12 and T1-S1 values during the observation period. MCGR treatment in EOS carries a risk of complications. While congenital and syndromic EOS often have short and less flexible curves in those groups of patients, single rods can be as effective and safe. Definitive fusion results in the mean final coronal correction between the start of MCGR treatment and after undergoing PSF of approximately 70%. The mean T1-T12 spinal height increased by 75 mm, while the T1-S1 spinal height gained a mean of 97 mm.

Association between structural rib autograft and the rate of arthrodesis in children undergoing occiput-C2 instrumentation and fusion.

The purpose of this study was to identify factors associated with fusion success among pediatric patients undergoing occiput-C2 rigid instrumentation and fusion. The Pediatric Spine Study Group registry was queried to identify patients ≤ 21 years of age who underwent occiput-C2 posterior spinal rigid instrumentation and fusion and had a 2-year minimum clinical and radiographic (postoperative lateral cervical radiograph or CT scan) follow-up. Fusion failure was defined clinically if a patient underwent hardware revision surgery > 30 days after the index procedure or radiographically by the presence of hardware failure or screw haloing on the most recent follow-up imaging study. Univariate comparisons and multivariable logistic regression analyses were subsequently performed. Seventy-six patients met inclusion criteria. The median age at surgery was 9 years (range 1.5-17.2 years), and 51% of the cohort was male. Overall, 75% of patients had syndromic (n = 41) or congenital (n = 15) etiologies, with the most frequent diagnoses of Down syndrome (28%), Chiari malformation (13%), and Klippel-Feil syndrome (12%). Data were available to determine if there was a fusion failure in 97% (74/76) of patients. Overall, 38% (28/74) of patients had fusion failure (95% CI 27%-50%). Univariate analysis demonstrated that use of a rigid cervical collar postoperatively (p = 0.04) and structural rib autograft (p = 0.02) were associated with successful fusion. Multivariable logistic regression analysis determined that patients who had rib autograft used in surgery had a 73% decrease in the odds of fusion failure (OR 0.27, 95% CI 0.09-0.82; p = 0.02). Age, etiology including Down syndrome, instrumentation type, unilateral instrumentation, use of recombinant human bone morphogenetic protein, and other variables did not influence the risk for fusion failure. In this multicenter, multidisciplinary, international registry of children undergoing occiput-C2 instrumentation and fusion, fusion failure was seen in 38% of patients, a higher rate than previously reported in the literature. The authors' data suggest that postoperative immobilization in a rigid cervical collar may be beneficial, and the use of structural rib autograft should be considered, as rib autograft was associated with a 75% higher chance of successful fusion.

Heart failure clinic inclusion and exclusion criteria: cross-sectional study of clinic’s and referring provider’s perspectives

ObjectivesThere are substantial variations in entry criteria for heart failure (HF) clinics, leading to variations in whom providers refer for these life-saving services. This study investigated actual versus ideal HF...

Gamut of Urological Diseases in a Tertiary Hospital in North Central Nigeria.

Worldwide, urological disorders vary from one topography to another. An in-depth understanding of their distribution in each region could serve as a basis for the distribution of manpower, equipment's alongside determine policy formulation and training. This study enumerates the annual frequency and distribution of urological disorders at the Federal Medical Centre, Keffi. A cross-sectional retrospective study from November 2021 to November 2022 of all new patients who attended the urology outpatient clinic, emergency department as well as those who had surgical interventions at the Federal Medical Centre, Keffi, Nasarawa State. The pertinent records were extracted from the patient's electronic medical records (EMR) and entered into a semistructured questionnaire. Data were analyzed using the SPSS software version 20. A total of 452 new patients were seen over the study period. There were 428 (94.5%) males and 24 (5.3%) females, with a male-to-female ratio of 17.8:1. The median age was 58 years, with the age range of 2-97 years. Urological emergencies were seen in 13.5% patients. Ninety-eight percent of cases were acquired, whereas 1.8% were of congenital etiology. Overall, the most commonly diagnosed urologic diseases among new patients in order of decreasing frequency were benign prostatic enlargement (BPE) (54.7%), urethral stricture disease (11.0%), upper tract urinary calculi (6.3%), prostate adenocarcinoma (5.9%), and male infertility (4.3%). BPE, urethral stricture disease, upper tract urinary calculi, prostate adenocarcinoma, and male infertility are common in our environment. An understanding of the urological disease distribution will enhance policy-making and drive manpower needs inspiring core areas of subspecialization with a view at improving the standard of urological care and promoting collaboration with international organizations and funding agencies.

A case of patient with decompensated Budd-Chiari syndrome treated with T-TIPS: A case report

A 46-years old man with a recent onset of painful hepatomegaly and abdominal swelling was referred to the emergency department and hospitalized in the internal medicine ward for a diagnostic hepatological work-up. He had no clinically significant previous medical history, except for a mild long-standing polycitemia. When admitted to hospital, he was febrile but hemodynamically stable (blood pressure 100/60 mmHg, pulse rate 90/min) and had a satisfactory blood oxygen saturation levels in room air. At clinical examination, he was slightly sub-icteric; a palpable but tender hepatomegaly together with a significant abdominal effusion and a mild leg swelling were noticed. In order to evaluate different possible causes of liver disease, alcoholic, viral, autoimmune, metabolic and congenital etiologies were excluded, mainly by biochemical tests.

A large cirsoid aneurysm of the scalp with multiple arterial supply: illustrative case.

Cirsoid aneurysm of the scalp is a rare arteriovenous fistula having a traumatic, congenital, iatrogenic, or idiopathic etiology. Its presentation can range from a small swelling to a large pulsatile mass with tinnitus, headache, and scalp necrosis. A 67-year-old female presented with a gradually increasing swelling on her forehead and head since childhood and no history of trauma. Examination revealed 12 × 5 cm tortuous midline swelling. Computed tomography angiography revealed a mass of tortuous vessels in the right frontoparietal region of the scalp with no bony defect or intracranial extension. Contrast-enhanced computed tomography of the head showed no intracranial pathology. The diagnosis of cirsoid aneurysm was made, and surgery was planned. A bicoronal incision was made. The feeding arteries were dissected and ligated. The nidus was carefully separated, cauterized, and excised in toto. Inadvertently, a buttonhole in the skin was created while dissecting the nidus, which was sutured. The patient developed a small area of scalp necrosis on the 10th postoperative day, which was debrided and sutured. At the 6-month follow-up, no signs of recurrence were present. A large cirsoid aneurysm of the scalp with multiple arterial supplies can be treated successfully with surgery. Meticulous dissection and hemostasis are warranted to avoid perioperative complications.

Three-Dimensional Imaging Analysis of the Developmental Process of Posterior Meniscofemoral Ligaments in Rat Embryos

Introduction: The posterior meniscofemoral ligament (pMFL) of knee joint is a ligament that runs posterior to the posterior cruciate ligament and it is known that the height of the pMFL attachment site causes meniscus avulsion. Therefore, understanding the three-dimensional (3D) structure of the pMFL attachment site is essential to better understand the pathogenesis of meniscus disorders. However, the developmental process of pMFL has not been well investigated. The purpose of this study was to analyze pMFL development in rat knee joints using 3D reconstructed images produced from episcopic fluorescence image capture (EFIC) images and examine its relationship with other knee joint components. Methods: Knee joints of Wistar rat embryos between embryonic day (E) 16 and E21 were observed with HE-stained tissues. Serial EFIC images of the hind limbs of E17–E21 were, respectively, captured from which 3D images were reconstructed and the features of pMFL structure: length and angle were measured. Besides, the chronological volume changes and the volume ratio of the knee joint components compared to E17 were calculated to identify the differences in growth by components. Results: pMFL was observed from E17 and was attached to the medial femoral condyle and lateral meniscus at all developmental stages, as in mature rats. The lack of marked variation in the attachment site and angle of the pMFL with the developmental stage indicates that the pMFL and surrounding knee joint components developed while maintaining their positional relationship from the onset of development. Conclusion: Current results may support to congenital etiology of meniscus disorder.

Symptomatic idiopathic pulmonary artery aneurysm: a case report and a mini-review of the literature.

Pulmonary artery aneurysms (PAAs) are rare, more prevalent in younger population with equal sex incidence. Congenital, idiopathic, autoimmune, infectious, inflammatory, and malignant etiologies have been linked to PAAs. Commonly, patients with PAA are asymptomatic, even those with large PAAs. Presenting symptoms, if any, are non-specific. The management should target the underlying conditions and serial imaging follow-up. Signs and symptoms of disease progression should prompt a change in treatment strategy. Though there is no consensus, those who are symptomatic with a PAA diameter > 5 cm generally should undergo surgical repair. More recently, endovascular interventions are available for certain PAAs. We present a 78-year-old female who was referred to the cardiology clinic for cough and dyspnea. Using computed tomography (CTA) of the chest, she was diagnosed with aneurysm of the main pulmonary artery (PA), without involvement of distal pulmonary arteries or thoracic aorta. She underwent repair of the pulmonary artery using a 34-mm tubular graft with a complete resolution of her symptoms.

Desmopressin Dose Requirements in Adults with Congenital and Acquired Central Diabetes Insipidus.

Central diabetes insipidus is a rare disorder characterized by a deficiency of vasopressin. The first line drug to treat this disorder is a synthetic analogue of vasopressin, desmopressin.The primary aim of this retrospective register study was to compare desmopressin dose requirements in patients with acquired and congenital DI, and secondly to assess the influence of BMI on dose requirement and risk of hyponatremia with different drug administrations. We included all patients with suspected DI attending the endocrine department at Rigshospitalet, Copenhagen, Denmark in 2022. We identified 222 patients who were included whereof 130/222 (58.6%) were females and median age was 53 years (IQR 35 to 63). The etiology included 7/222 (3.2%) congenital and 215/222 (96.8%) acquired. After converting nasal and sublingual doses to equivalent oral doses, the median daily dose requirement was 600 μg in patients with congenital etiology compared to 200 μg in patients with acquired etiology (p=0.005). We found no association between BMI and desmopressin dose requirements (p=0.6). During the past 12 months, 66/215 (30.7%) had sodium levels<136 mmol/l including 20/215 (9.3%) with sodium levels<131 mmol/l. No increased risk of hyponatremia was found, when nasal and oral were compared (p=0.9). Daily desmopressin dose requirements were higher in patients with congenital DI compared to patients with acquired DI. However, this result was associated with uncertainty due to the small congenital group. BMI did not influence daily dose requirements and nor did type of administration influence the risk of hyponatremia.