Reconstruction of sacral defects following necrosis of buttocks due to embolization of internal iliac artery using a transverse lumbar flap

Fractures of the pelvis associated with uncontrollable hypotension are managed by stabilization of fractures and arteriographic embolization of the bleeding vessels. Embolization of these arteries may result in necrosis of the buttocks. The use of a transverse lumbar artery-based flap can be used for repair of these defects.     

Dupuytren��s contracture following burn injury of the hand: A case report and review of literature

In burn patients, scar contractures adjacent to or across the joints lead to disabling deformities. In Dupuytren’s disease, the proliferative process involves the fascia of the palm and fingers, resulting in disabling flexion contractures of the fingers and the palm. A single insult involving the hand or even a more proximal injury may lead to Dupuytren’s disease.     

Epidemiology of gastroschisis: A population-based study in California from 1995 to 2012

Background

Although the incidence of gastroschisis is increasing, risk factors are not clearly identified.

Active pulmonary tuberculosis manifesting with idiopathic thrombocytopenic purpura: a rare presentation

A 17-year-old girl presented with a 3-day history of epistaxis, vaginal bleeding and petechiae over the lower extremities. The patient had been feeling unwell with productive cough, fever, chills, poor appetite and weight loss for 2 months. Laboratory findings revealed anemia and thrombocytopenia, whereas bone marrow examination was unremarkable. She was diagnosed as having idiopathic thrombocytopenic purpura (ITP) in association with active tuberculosis (TB). The patient was treated with intravenous immunoglobulin (IVIg) and corticosteroid along with anti-TB drugs. During the follow-up period there was no recurrence of thrombocytopenia or TB. It is important to consider TB in the differential diagnosis of ITP, particularly in high TB-burden areas.     

Whipple’s Disease: A Rare Disease Revisited

Since the original postmortem diagnosis of “intestinal lipodystrophy” by Dr. George H. Whipple in 1907, the complexities of Whipple’s disease have been elucidated through case reports. Universally fatal prior to the advent of antibiotics, Tropheryma whipplei is increasingly recognized as an organism that can be treated only if the clinician seeks to identify it. Whipple’s disease is primarily a gastrointestinal disease manifesting as a malabsorption syndrome, and is detected through endoscopy and intestinal biopsy. Nongastrointestinal manifestations of the disease, although less common, are reported and have aided in its recognition as a multiorgan disease entity. Because of its rarity, treatment recommendations are currently based on observational studies and on one recent prospective study, which outlined induction therapy followed by several months of suppressive maintenance therapy to prevent relapse, which is often characterized by neurologic symptoms.     

Synthesis and characterization of scVEGF‐PEG‐[68Ga]NOTA and scVEGF‐PEG‐[68Ga]DOTA PET tracers

Vascular endothelial growth factor (VEGF) signaling via vascular endothelial growth factor receptor 2 (VEGFR‐2) on tumor endothelial cells is a critical driver of tumor angiogenesis. Novel anti‐angiogenic drugs target VEGF/VEGFR‐2 signaling and induce changes in VEGFR‐2 prevalence. To monitor VEGFR‐2 prevalence in the course of treatment, we are evaluating ⁶⁸Ga positron emission tomography imaging agents based on macrocyclic chelators, site‐specifically conjugated via polyethylene glycol (PEG) linkers to engineered VEGFR‐2 ligand, single‐chain (sc) VEGF. The ⁶⁸Ga‐labeling was performed at room temperature with NOTA (2,2′,2′′‐(1,4,7‐triazonane‐1,4,7‐triyl) triacetic acid) conjugates or at 90 °C by using either conventional or microwave heating with NOTA and DOTA (2,2′,2′′,2′′′‐(1,4,7,10‐tetraazacyclododecane‐1,4,7,10‐tetrayl) tetraacetic acid) conjugates. The fastest (~2 min) and the highest incorporation (>90%) of ⁶⁸Ga into conjugate that resulted in the highest specific radioactivity (~400 MBq/nmol) was obtained with microwave heating of the conjugates. The bioactivity of the NOTA‐ and DOTA‐containing tracers was validated in 3‐D tissue culture model of 293/KDR cells engineered to express high levels of VEGFR‐2. The NOTA‐containing tracer also displayed a rapid accumulation (~ 20 s after intravenous injection) to steady‐state level in xenograft tumor models. A combination of high specific radioactivity and maintenance of functional activity suggests that scVEGF‐PEG‐[⁶⁸ Ga]NOTA and scVEGF‐PEG‐[⁶⁸ Ga]DOTA might be promising tracers for monitoring VEGFR‐2 prevalence and should be further explored. Copyright © 2011 John Wiley & Sons, Ltd.     

Lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency

A 33-year-old man was admitted in hospital due to fever, generalized lymphadenopathy, and hepatosplenomegaly. He had a history of anti-tuberculosis treatment in the previous 3 years. Despite normal chest radiograph, a sputum sample was smear-positive for acid-fast bacilli, and polymerase chain reaction was positive for Mycobacterium tuberculosis complex. Drug susceptibility test revealed resistance to isoniazid and rifampin. Evaluation of the patient’s immune system revealed IL-12Rβ1 deficiency. The patient died of disseminated tuberculosis (TB), despite appropriate antibiotic treatment. This is the first IL-12 receptor-deficient patient presenting with disseminated TB in adulthood, without any previous relevant medical history. This diagnosis should be considered in selected adult patients with unexplained, overwhelming TB. IL-12Rβ1 deficiency is a genetic etiology of severe TB in adults and should be considered in adult patients with disseminated TB.     

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC). Mutation analysis has traditionally been challenging, due to the large gene size (79 exons over 2.2 Mb of genomic DNA). We report a very large aggregate data set comprised of DMD mutations detected in samples from patients enrolled in the United Dystrophinopathy Project, a multicenter research consortium, and in referral samples submitted for mutation analysis with a diagnosis of dystrophinopathy. We report 1,111 mutations in the DMD gene, including 891 mutations with associated phenotypes. These results encompass 506 point mutations (including 294 nonsense mutations) and significantly expand the number of mutations associated with the dystrophinopathies, highlighting the utility of modern diagnostic techniques. Our data supports the uniform hypermutability of CGA>TGA mutations, establishes the frequency of polymorphic muscle (Dp427m) protein isoforms and reveals unique genomic haplotypes associated with “private” mutations. We note that 60% of these patients would be predicted to benefit from skipping of a single DMD exon using antisense oligonucleotide therapy, and 62% would be predicted to benefit from an inclusive multiexonskipping approach directed toward exons 45 through 55. Hum Mutat 30:1657–1666, 2009. © 2009 Wiley-Liss, Inc.