Inheritance patterns, challenges, and outcomes of fracture management in osteopetrosis patients. CASE series and review of pertinent literature

ConclusionWith all-inclusive preoperative planning and careful postoperative care surgical treatment of fractures in OP is effective. The cases presented showed that plate osteosynthesis and intramedullary nailing are suitable options. Genetic factors and inheritance pattern should be discussed with patients.
Source: Annals of Medicine and Surgery - Category: General Medicine Source Type: research

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This article presents a 68-year-old man with calcific myonecrosis of the leg 40 years after a tibial fracture complicated with peroneal nerve palsy. The soft tissue mass increased in size after another injury to the leg that occurred two years before his presentation. Physical examination at presentation showed a palpable extra-osseous mass at the anterior aspect of the left leg; the mass was not adherent to adjacent soft-tissues and bone, and it was painless but tender to palpation. Radiographs of the left leg showed extensive calcification at the soft-tissue of the anterior and posterior leg. An ultrasonography-guided tr...
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Tags: Medicina (Kaunas) Source Type: research
ConclusionsCases of postoperative RVF have been increasingly reported since the introduction of stapled hemorrhoidopexy. Patients with RVF can have a varying degree of symptoms. Diagnosis is primarily based on the patient ’s medical history together with a clinical examination. There are many surgical approaches for RVF. Anatomic fistula repair alone is associated with lower success rates compared with combined procedures with the adjunctive interposition of healthy, vascularised tissue.
Source: International Journal of Colorectal Disease - Category: Gastroenterology Source Type: research
Conclusions: Ochronosis is a very rare disease in Asia. This paper supplies new information for study of this disease. The mechanism is still unknown right now. Further studies will be necessary.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Conclusions: Although BHDS is considered a rare disease, BHDS underlies spontaneous pneumothorax more often than usually believed, especially whenever a family history of pneumothorax is present. Diagnosis of BHDS is essential to start monitoring patients for the risk of developing renal malignancies.Respiration
Source: Respiration - Category: Respiratory Medicine Source Type: research
Publication date: Available online 25 June 2019Source: Journal of Pediatric Surgery Case ReportsAuthor(s): Amanda Munoz, Andrei Radulescu, Joanne Baerg, Yomara Mendez, Faraz A. KhanAbstractCongenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder that affects adipocyte development. Presentation varies based on type. A 12-year old female with CGL type 4, developed a sigmoid colon perforation in the setting of colonic wall hypertrophy after colonoscopy. She presented to the emergency room (ER) with several days of worsening abdominal pain and fevers. The initial evaluation was concerning for infectiou...
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research
ConclusionsPersistent oral N-acetylcysteine may be an alternative treatment option for secondary PAP.
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
ConclusionSMA syndrome is a rare disease that can go unrecognized and undiagnosed, exacerbating weight loss in an already significantly malnourished patient population. The diagnosis of SMA syndrome must be based on clinical symptomatology correlated with radiographic information. Once diagnosed, SMA syndrome can be safely treated by conservative measures although occasionally requires invasive intervention in the form of enteral tube placement, percutaneous jejunostomy tube placement, total parenteral nutrition, ligament of Treitz lysis, or duodenojejunostomy.
Source: Abdominal Imaging - Category: Radiology Source Type: research
Conclusions: The proposed nomogram is a reliable and robust tool for accurate prognostic prediction in patients with extremity soft tissue LMS. Introduction Soft tissue leiomyosarcoma (LMS) is an aggressive sarcoma, which originates from smooth muscle cells (1). Soft tissue LMS accounts for about 5–10% of all soft tissue sarcomas (2). It occurs in different sites, including the retroperitoneum, intraabdominal sites, and extremities (3). Extremity LMS comprised about 10–15% of extremity sarcomas, with a preference for the lower limb (4–6). Extremity LMS tends to have a better prognosis than uterine...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
ConclusionsAlthough it is difficult to diagnose oral focal mucinosis based on clinical symptoms and imaging findings, the disease should be considered a possibility when diagnosing benign oral tumors. We believe that an emphasis on histopathologic study is essential to confirm the clinical suspicion.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
CONCLUSIONParathyroid adenoma causing primary hyperparathyroidism is a rare disease in children. They typically present with nonspecific symptoms involving gastrointestinal, musculoskeletal, renal and neurological symptoms due to hypercalcemia. Moreover, Genu valgum is a rare presentation in children with parathyroid adenoma.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
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