A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I.

BACKGROUND: Crigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of UDPGT enzyme due to mutations in the UGT1A1 gene. This enzyme is responsible for elimination of unconjugated bilirubin from the body by glucuronidation. Affected individuals are at risk for kernicterus and require lifelong phototherapy. Liver transplant is the only definitive treatment. CASE PRESENTATION: Here we report a case of a 6 month old Sudanese female infant with CN1 whose molecular analysis revealed a novel homozygous 22 base pair duplication (c.55_76dup) in the coding exon 1 of the UGT1A1 gene. This 22 bp duplication causes a frame shift leading to a premature stop codon. She underwent a successful liver transplant at 7 months of age and is doing well at 1 year follow-up. CONCLUSION: This study shows that molecular diagnosis helps in precise diagnosis of CN1 and in prognosis, prompt medical intervention and appropriate therapy. This particular 22 bp duplication within the coding region of UGT1A1 can be a founder mutation in the Sudanese population.

Functional and Radiological Outcomes of Unstable Proximal Femur Fractures Fixed With Anatomical Proximal Locking Compression Plate.

Introduction Peritrochanteric fractures are the most frequent fractures of the proximal femur that accounts for nearly half of all proximal femur fractures. They are a major cause of disability in the elderly. The aim is to study the functional and radiological outcome of unstable proximal femur fractures fixed with proximal femur locking compression plate (PF-LCP) and its complications. Unstable proximal femur fracture patients operated with proximal femur locking compression plate were followed up functionally by Harris Hip Score and radiologically by neck-shaft angle measure. Materials and methods A retrospective analysis of 30 patients with unstable peritrochanteric fractures treated with PF-LCP in the first-level trauma center was conducted between 2015 and 2019. Stable peritrochanteric, pediatric and open fractures, and polytrauma were excluded. As a mid-term follow-up, functional and radiological outcomes were assessed at six weeks, three months, six months, and 12 months. Data was analyzed using a chi-square test, and results were compared with available western literature.  Results Thirty patients with unstable peritrochanteric fractures operated between 2015 and 2019, complying with our inclusion criteria, were analyzed. All patients were operated by the same surgeon and were available for a mid-term follow-up (12 months). Mean radiological union time was 12.5+/-2 weeks, with 24 patients achieving union between 10-15 weeks, three patients had union little more than 15 weeks. Two patients had non-union and required re-surgery. Functional results were assessed in the 30 patients available for follow-up using Harris Hip Score. Excellent results were seen in 17, good in seven, fair in three, and poor in three patients. Conclusions The choice of implant used to manage unstable peritrochanteric fractures has always been a debatable subject in our orthopedic fraternity. In our study, we used the anatomic, fixed-angle plates in peritrochanteric fractures and obtained significant functional and radiological outcomes over a midterm follow-up. We recommend PF-LCP as a good, stable alternative in the treatment of peritrochanteric femoral fractures. We consider that fracture pattern and extent in the proximal femur have a definite influence in determining the implant of choice. It provides good-to-excellent bone healing with reduced complications and better biomechanical stability.

Cutaneous Multiple Myeloma.

Multiple myeloma is a plasma cell dyscrasia characterized by abnormal bone marrow clonal plasma cells, histological confirmation of plasmacytoma, monoclonal protein in serum or urine, and evidence of end-organ damage. Organ involvement in multiple myeloma manifests as CRAB (hyperCalcemia, Renal insufficiency, Anemia, lytic Bone lesions). Cutaneous complications in multiple myeloma have been reported in many different phenotypes such as cryoglobulinemia rash, bruising, amyloid deposition, and squamous cell carcinoma. However, cutaneous metastasis of multiple myeloma is very rare with fewer than 100 cases described in the literature so far. Here, we present a case of biopsy-confirmed primary cutaneous multiple myeloma. Our case has other less common features of multiple myeloma such as renal amyloidosis and a coexisting malignant melanoma. This case report describes a unique presentation of multiple myeloma to understand the disease better.

Autoimmune atrophic gastritis in systemic sclerosis.

Systemic sclerosis (SSc) is a rare connective tissue disorder with a complex pathogenesis involving vascular dysfunction, small vessel proliferation as well as alterations of innate and adaptive immunity. Gastrointestinal (GI) involvement in SSc is almost universal and affects nearly 90% of the patients. Of all the GI manifestations, 30%-75% are oesophageal abnormalities, including gastro-oesophageal reflux disease, reflux oesophagitis and Barret's oesophagus. The incidence of gastric manifestations is about 22% with a common presentation of gastric antral vascular ectasia (GAVE). However, autoimmune atrophic gastritis (AIG) is not a known manifestation of SSc. Our case has a unique presentation of the coexistence of GAVE and AIG. We have conducted a thorough literature review to study a possible association of AIG and SSc and understand the pathology of SSc.