TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

Due to the majority of currently available genome data deriving from individuals of European ancestry, the clinical interpretation of genomic variants in individuals from diverse ethnic backgrounds remains a major diagnostic challenge. Here, we investigated the genetic cause of a complex neurodevelopmental phenotype in two Palestinian siblings. Whole exome sequencing identified a homozygous missense TECPR2 variant (Chr14(GRCh38):g.102425085G>A; NM_014844.5:c.745G>A, p.(Gly249Arg)) absent in gnomAD, segregating appropriately with the inheritance pattern in the family. Variant assessment with in silico pathogenicity prediction and protein modeling tools alongside population database frequencies led to classification as a variant of uncertain significance. As pathogenic TECPR2 variants are associated with hereditary sensory and autonomic neuropathy with intellectual disability, we reviewed previously published candidate TECPR2 missense variants to clarify clinical outcomes and variant classification using current approved guidelines, classifying a number of published variants as of uncertain significance. This work highlights genomic healthcare inequalities and the challenges in interpreting rare genetic variants in populations underrepresented in genomic databases. It also improves understanding of the clinical and genetic spectrum of TECPR2-related neuropathy and contributes to addressing genomic data disparity and inequalities of the genomic architecture in Palestinian populations.

Primary intravesical insertion of intrauterine device for 10 years: Clinical presentation and outcome.

Intrauterine device (IUD) is considered the second most widely used method of contraception. Migration of the IUD into the urinary system has been reported. Nevertheless, a missed IUD which is mistakenly inserted into the bladder has rarely been reported. We report a female patient experienced recurrent urinary tract infection (UTI) for 10 years without appropriate evaluation. The underlying problem was an IUD that inserted into the bladder led to the formation of bladder stone. The clinical course and the endoscopic management of the stone and the IUD is reviewed in this case report.

Acontractile detrusor as an initial presentation of sacral spinal cord lesion: Case series.

OBJECTIVES: This study aims to investigate cases of acontractile bladder as the initial presentation of benign and malignant spinal conditions. The focus is on the challenges in making a diagnosis and the importance of a thorough neurological evaluation. METHODS: We conducted a retrospective case series involving three patients who exhibited symptoms of acontractile bladder. Detailed clinical histories, urodynamic studies, and imaging techniques such as lumbosacral magnetic resonance imaging (MRI) were analyzed. Histopathological findings from relevant biopsies were also taken into account. RESULTS: Case 1: A 14-year-old female presented with urinary retention, back pain, and an acontractile bladder on urodynamic study. Further examination, including lumbosacral MRI and histopathology, confirmed a diagnosis of metastatic Ewing's Sarcoma. Case 2: A 39-year-old female with urinary incontinence and elevated post-void residual exhibited delayed bladder sensation. Lumbar spine MRI revealed a grade I Schwannoma after surgical resection. Case 3: A 15-year-old male with lower urinary tract symptoms and an acontractile detrusor on urodynamic study was found to have a Tarlov cyst on lumbosacral MRI. CONCLUSION: Atonic or Underactive bladder syndrome may be the initial presentation of a serious spinal condition. Complete neurological evaluation is mandatory if no obvious clinical cause.

An unusual case of Takayasu arteritis presenting with persistent cough in a young female patient: A case report.

Takayasu arteritis (TA) is a chronic granulomatous inflammatory arteritis of large vessels. Females aged 20-40 are usually affected and the manifestations can range from asymptomatic disease to major cardiovascular and neurological abnormalities. Herein, we present a case of a 20-year-old female who had a persistent cough as the initial manifestation of an underlying TA. She had a free past medical history. The patient sought medical help multiple times and took many antibiotics with no improvement. Laboratory tests showed a marked elevation in inflammatory markers so the patient was admitted for further investigations. CT scan showed a circumferential mural thickening involving mainly the descending thoracic aorta which is highly suggestive of an underlying chronic granulomatous vasculitis behind this. Our patient was treated with a combination of corticosteroid and azathioprine and showed substantial improvement after 2 weeks. TA can present with various symptoms. Therefore, patients presenting with atypical symptoms and late-onset vascular symptoms need a high degree of suspicion with close follow-up to allow early detection of any complication.

A diagnostic challenge: misdiagnosing Blau syndrome as juvenile dermatomyositis in a pediatric patient.

Introduction: Blau syndrome (BS) and juvenile dermatomyositis (JDM) are distinct conditions with different pathophysiological mechanisms. Accurate diagnosis of BS can be challenging due to overlapping clinical features with other inflammatory conditions. This case is being reported to highlight a pediatric case initially diagnosed with JDM, and subsequently found to have BS through genetic testing. Case Presentation: We present the case of a 4-year-old Arab male initially diagnosed with JDM based on skin manifestations, negative histology for another disease, and no other clinical features suggestive of an alternate diagnosis. However, subsequent symptoms suggestive of BS emerged, leading to genetic testing confirmation of BS, marking the second reported case in the region. This unique clinical scenario highlights the challenges in diagnosing BS and the potential for misinterpretation of the skin rash as JDM. Accurate differentiation between these conditions is crucial to guide appropriate management and prevent delays in treatment. Discussion: The diagnostic process for JDM involves clinical evaluation, laboratory investigations, imaging, and biopsy findings. However, muscle biopsy may yield false-negative results. BS has been misdiagnosed as other conditions, such as Kawasaki disease and juvenile idiopathic arthritis, due to overlapping clinical features. This case highlights the significance of a thorough diagnostic strategy for BS that takes into account any potentially negative histopathology findings. A precise diagnosis is essential since misdiagnosis can result in inadequate or delayed therapy. Conclusion: The diverse presentation of the skin rash in BS can pose difficulties for physicians in distinguishing it from other pediatric rheumatological conditions, such as JDM.

Exploring Anatomical Variations of Abdominal Arteries Through Computed Tomography: Classification, Prevalence and Implications.

BACKGROUND AND AIMS: Variations in the branches of the abdominal aorta are relatively prevalent and can impact certain surgeries. The accurate identification and differentiation of these variations pre- and intraoperatively are crucial to avoid negative clinical sequelae. This study aimed to investigate the prevalence of variations in some branches of the abdominal aorta and to identify the most frequent variants as well as any rare variants not previously classified in the existing classification systems. The study's findings may help improve the understanding and management of these variations. MATERIALS AND METHODS: This retrospective study was conducted at the Department of Radiology at An-Najah National University Hospital (NNUH) and included 550 abdominal computed tomography (CT) angiographic scans for patients (51.5% males, 48.5% females) performed between January 2017 and January 2023. RESULTS: Variations were most common in the hepatic arteries (34.7%), followed by the renal arteries (31.3%). Variations in the celiac trunk were the least frequent (9.8%). The gastro-splenic trunk (type V) was the most common celiac trunk variant. The most common hepatic artery variant was the replacement of the right hepatic artery (type III). Accessory renal arteries were more frequent on the left side and among males (P = 0.01). The celiac trunk variations had a significant association with the hepatic artery variations (P = 0.001) and the renal artery variations (P = 0.011), respectively. CONCLUSION: There is a high prevalence of anatomical variations in the described vessels, and it matches the results in the reported literature. Our findings also suggest the possible coexistence of variants. We have also encountered rare variants, especially in the hepatic arterial system. Some of the hepatic arterial system variants are not included in the older classification systems, calling for an extension of the old systems (Michel's and Hiatt classification systems) or replacement with the newer (CRL or EX-CRL classification systems) to account for rare variants not previously classified. Radiologists and surgeons should be proficient in identifying and differentiating these variations to take precautions and actions for each variant individually.

Anti-Zic4 Paraneoplastic Cerebellar Degeneration With Mesial Temporal Lobe Hyperintensity in a Patient With Papillary Thyroid Carcinoma: A Case Report and Review of the Literature.

Paraneoplastic cerebellar degeneration (PCD), a subtype of paraneoplastic neurological syndromes (PNSs), is a rare autoimmune neurologic syndrome that usually develops secondary to an underlying malignancy. We present a 49-year-old patient that developed PCD secondary to occult papillary thyroid carcinoma. The patient had progressive difficulty ambulating for 3 years. A neurological exam revealed signs of cerebellar syndrome. Brain magnetic resonance imaging (MRI) showed significant cerebellar atrophy and mesial temporal lobe hyperintensity. Immunological testing was highly positive for anti-CV2 and anti-Zic4 onconeural antibodies. Positron emission tomography (PET)/Computerized tomography (CT) scan revealed significant hypermetabolic uptake of F-18 fluorodeoxyglucose (FGD) by a left thyroid nodule. Histological examination of the nodule was positive for papillary thyroid carcinoma, confirming the diagnosis of PCD. A trial of high-dose methylprednisolone failed to improve the patient's symptoms. This case highlights the importance of maintaining high suspicion for PCD while investigating cases of cerebellar degeneration. Early detection is essential to prevent irreversible damage in affected patients.

Distal Radial Artery Access in comparison to Forearm Radial Artery Access for Cardiac Catheterization: A Randomized Controlled Trial (DARFORA Trial).

Background: In our clinical practice, conventional radial access has been employed routinely for coronary procedures. The distal radial artery (DRA) access site has recently emerged as a novel technique in cardiac procedures. Objectives: This study compares distal radial access to standard forearm radial access (FRA) in terms of feasibility, outcomes, and complications. Method: This prospective, randomized trial was conducted at a single center. The patients were chosen from An-Najah National University Hospital's catheterization laboratory between December 2019 and November 2020. A total of 209 patients were randomized into two groups: DRA group (n = 104) and FRA group (n = 105). Results: Access was successful in 98% of patients in both the groups. The DRA group had a longer puncture duration and a higher number of attempts (duration: 56.6 ± 61.1 s DRA vs. 20.0 ± 18.4 s FRA, p < 0.001, attempts: 1.9 ± 1.3 DRA vs. 1.2 ± 0.60 FRA, p < 0.001). Puncture-associated pain was greater in the DRA group (4 ± 2.2 DRA vs. 3 ± 2.1 FRA, p=0.001). There were two radial artery occlusions in the FRA group and none in the DRA group (p=0.139). Percutaneous coronary intervention (PCI) was performed in 26% of the DRA group and 37.1% of the FRA group. The DRA group had significantly shorter procedure times (p=0.006), fluoroscopy times (p=0.002), and hemostasis times (p=0.002). Over time, the learning curve demonstrated improved puncture duration and a decrease in the number of puncture attempts. Conclusions: DRA is a safe and practical alternative to FRA for coronary angiography and intervention. The overtime learning curve is expected to improve puncture-related outcomes.

Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.

BACKGROUND: Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI evidence of diffuse symmetric white matter swelling and subcortical cysts in the anterior temporal and frontoparietal regions. Later in the disease course, significant spasticity and ataxia develop, which may be accompanied by intellectual deterioration. This disease is caused mostly by biallelic pathogenic variants in the MLC1 gene. METHODS: In this study, we analysed the clinical and molecular architecture of 6 individuals, belonging to 4 unrelated consanguineous Palestinian families, presenting with consistent MLC features. We sequenced the entire coding and flanking intronic regions of the MLC1 gene. RESULTS: In all recruited individuals, we detected one recurrent homozygous splice donor mutation NM_015166.4: c.423 + 1G > A. All parents were heterozygous carriers. The mutation abolishes a highly conserved splice site in humans and other species. In silico splice predictors suggested the loss of a canonical splice donor site (CADD score 33.0. SpliceAI: 0.980). The c.423 + 1G > A variant is rare; it was detected in only 4 heterozygous carriers in gnomAD. CONCLUSION: In this study, we identified a recurrent MLC1 variant (c.423 + 1G > A) as the cause of MLC among a group of Palestinian patients originating from a particular region of the country. Cost-effective studies should be performed to evaluate the implementation of carrier screening in adults originating from this region. Our findings have the potential to contribute to improved genetic diagnosis and carrier testing for individuals within this population and the wider community.

Magnetic resonance imaging of severe idiopathic club foot treated with one-week accelerated Ponseti (OWAP) technique.

PURPOSE: This study aims to evaluate changes in tarsal bones relationship after the use of one week accelerated Ponseti method in the treatment of severe idiopathic clubfoot using MRI. We hypothesize that one-week accelerated Ponseti is at least as effective as standard techniques in achieving the desirable MRI parameters. METHODS: This is a prospective study of 8 children with severe idiopathic clubfeet (Pirani 6) (4 unilateral and 4 bilateral) treated before the age of three months with one-week accelerated Ponseti technique, as described in a former study with minimum 2-year follow-up. The 8 corrected feet were compared with the 4 unilateral normal feet at clinical and radiological levels using a Pirani scoring system and an MRI, respectively. RESULTS: Clinical results showed that Pirani score was 1.1 in the last follow up in comparison to Pirani 6 pretreatment (p < 0.05). MRI results indicated that the malleocalcaneal angle, axial malleocalcaneal index, coronal tibiocalcaneal angle, sagittal talocalcaneal angle, and talar head neck calcaneal rotation showed statistical difference between the two groups (p < 0.05). Sagittal malleocalcaneal index, sagittal tibiocalcaneal angle, talar head neck rotation related to talar body, and posterior calcaneal rotation showed no statistical difference between normal feet and clubfeet after correction (p value >0.05). CONCLUSION: One-week accelerated Ponseti technique showed to be as effective and safe as other treatment methods through clinical and MRI follow up data. MRI role was to confirm the efficiency of this innovative accelerated technique, but not used as a routine follow up.

Global Analysis of Research Trends on Kidney Function After Nephron-Sparing Surgery: A Bibliometric and Visualised Study.

BACKGROUND: Nephron-sparing surgery (NSS) for small renal masses (SRMs) is currently the standard of care to treat renal cell carcinoma (RCC). The concept of partial resection of RCC has mainly been developed to preserve kidney function. Therefore, we have performed this study to explore the research activity that has been undertaken since the early twenty-first century to investigate the advantages of NSS on preserving kidney function and preventing chronic kidney disease (CKD). METHODS: Based on the Scopus database, this bibliometric study was used to reveal publication patterns in the kidney function and NSS research field. The data were analysed with VOSviewer version 1.6.16 software, which was used to create a network visualisation map that included research hotspots in this area. RESULTS: A total of 449 scientific publications focused on renal function in NSS between 2001 and 2020. One hundred and seventy (38%) of the total published articles originated from the USA. Journal of Urology, European Urology, and Journal of Endourology were the top publications detailing research in this field. Half (50%) of the top 10 cited articles were published in the Journal of Urology, with an average citation of around 200 per article. The three most encountered research themes were comparative studies between partial and radical nephrectomy in terms of kidney function and development of CKD, the impact of type and duration of ischemia during resection on glomerular filtration rate (GFR) decline, and the effect of different surgical approaches on intermediate and long-term kidney function. CONCLUSION: NSS for SRMs and RCC and its impact on kidney function is a hot topic in the literature, and the amount of published data has consistently been rising since 2000. However, even though hundreds of documents have studied this topic from various perspectives, there is a compelling need to answer several questions such as the overall survival (OS) benefit of performing NSS in localised RCC and head-to-head comparison of robotic-assisted versus laparoscopic NSS in terms of warm ischemia time and long-term decline in GFR.

Dismembered pyeloplasty for post-traumatic ureteropelvic junction avulsion in a child.

Non - iatrogenic ureteral injury is rare because of the well-protected retroperitoneal location of the ureter with an incidence of less than 1%. Furthermore, isolated ureteropelvic junction (UPJ) avulsion as a result of acceleration/deceleration injury is extremely uncommon and may lead to significant morbidity if the diagnosis has not been made early using CT scan with delayed execratory phase. Endourological management of partial ureteric injuries is feasible, however, uretero-ureterostomy is the standard of care for complete upper ureteric injuries. We present a fourteen years old boy presented with UPJ avulsion secondary to blunt trauma treated with dismembered pyeloplasty approach.

Clinical and Radiological Predictors of Early Intervention in Acute Ureteral Colic.

PURPOSE: Acute ureteric colic (AUC) is generally one of the most common reasons for emergency department attendance. Expectant management is recommended in non-complicated ureteral calculi. However, data regarding the optimal duration of observation or indications of early intervention (EI) are not well understood. This article describes the clinical and radiological factors that promote EI in AUC. PATIENTS AND METHODS: This was an observational and retrospective cohort study. Patients with AUC diagnosed based on non-contrast computerized tomography (NCCT) between 2019 and 2020 were enrolled in the study. These patients were classified into two main categories: spontaneous passage of stone (SSP) and EI. In addition, a comparative analysis was performed to identify clinical and radiological variables that promote EI. RESULTS: One-hundred and sixty-one patients were included. High WBCs are associated with a significant increase in EI. Forty-three percent (n=37) of patients with serum WBCs higher than 10 had an EI, while 23% had SSP (n=17;p<0.001). High CRP level is also significantly associated with EI (n=36; 86%; p<0.001). Upper and middle ureteral calculi are statistically associated with EI (n=54; 62%) in comparison to the SSP cohort (n=22; 30%;p<0.001). EI is also linked to the maximal length of ureteric calculi (MCL) of 9 mm (6-13mm), and HU density of stone of 700 (430-990) H.U (p<0.001). Ureteric stone volume of 0.2 (0.06-0.3) cm3 is significantly associated with EI (p<0.001). Ureteral wall thickness of 3 (2-3 mm), the presence of extrarenal pelvis (n=20; 23%), and AP diameter of renal pelvis 18 (13-28 mm) are all significantly associated with a higher rate of EI (p<0.001). Multiple binary logistic regression analysis showed that MCL is the strongest predictor of EI. CONCLUSION: MCL is an independent and robust predictor of EI in AUC. Biochemical variables and radiological characteristics can also act as an adjunct to promote EI.

Laparoscopic heminephrectomy in a horseshoe kidney affected by xanthogranulomatous pyelonephritis: A modified approach.

Horseshoe kidney (HSK) is a common congenital kidney anomaly that is encountered frequently by urologists. It is rare for HSK to be affected by xanthogranulomatous pyelonephritis (XGP), a potentially life-threatening condition. The standard of care for XGP is open nephrectomy, but recently a few case reports have been published showing the feasibility of minimally invasive surgery to deal with XGP. We present a case of HSK affected by XGP treated successfully with modified laparoscopic transperitoneal heminephrectomy. The rarity of such a combination, the modified approach, and the successful outcome encouraged us to report it.

An assessment of medical students' proficiency regarding the hazards of radiological examinations on the health of workers and patients: a cross-sectional study from Palestine.

BACKGROUND: The use of radiological examination is increasing worldwide. Since radiation exposure can result in many health hazards, medical professionals, as well as medical students, should possess adequate knowledge regarding radiation and its related hazards to protect themselves and the patients. Many studies have assessed medical students' knowledge on this topic, but never in Palestine. In this study, we aimed to examine Palestinian medical students' awareness and knowledge regarding radiological examination modalities and their risks on themselves and their patients. METHODS: This was an observational, cross-sectional, population-based study, conducted to assess the awareness of radiation exposure and its risks among Palestinian medical students. An online questionnaire was implemented on medical students at An-Najah National University. A total knowledge score that ranged from 0 to 22 was calculated for each participant, with higher scores indicating better knowledge regarding radiation doses and the related hazards. RESULTS: Two hundred eighty and seven students participated in our study, with a response rate of 71%. The average knowledge score of the participants was 10.97 ± 4.31 out of a maximum of 22 points. Male participants and participants in advanced study years achieved better knowledge scores (p-values were 0.034 and < 0.001, respectively). Perceived radiology knowledge was significantly associated with the actual knowledge score among the participants (p-value< 0.001). Receiving radiology lectures in fourth and fifth years significantly affected the participants' knowledge score (p-values were < 0.001). CONCLUSIONS: We found a severe lack of knowledge regarding radiation doses and related risks among medical students. Therefore, we recommend that medical schools update and supplement their curriculum regarding knowledge on radiation.