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1.
Cureus ; 16(2): e53571, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38445161

RESUMO

Cecal volvulus is a rare, life-threatening form of bowel obstruction caused by the entanglement of the bowel around the mesenteric axis, compromising blood supply and leading to obstruction and ischemia. The diagnosis is challenging due to its highly variable clinical presentation and differential diagnoses, which may delay timely intervention. This is a case report of an 89-year-old woman who presented with a two-day history of lower right quadrant abdominal pain, nausea, and a temporary loss of consciousness. She also reported a history of chronic constipation. Clinical examination and imaging were suggestive of bowel obstruction, prompting further investigation. Plain radiography and abdominal CT confirmed bowel obstruction, with suspicion of volvulus. The diagnostic uncertainty between cecal and sigmoid volvulus prompted a colonoscopy, which excluded sigmoid volvulus. Emergency laparotomy revealed cecal volvulus and a distended cecum with ischemic changes but without necrosis. A right hemicolectomy was performed, and the patient recovered well postoperatively. This case report aims to expand the medical knowledge around the topic of cecal volvulus. It underscores the challenges in diagnosing and managing this condition and emphasizes the importance of prompt recognition and surgical intervention to improve patient outcomes.

2.
Eur J Case Rep Intern Med ; 9(3): 003231, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35402322

RESUMO

Small bowel tumours are rare, representing about 0.5% of all tumours and about 3% of gastrointestinal tract tumours. The low prevalence contrasts with the vast surface area of the small intestine, which accounts for over 90% of the surface area of the digestive tract. The frequency of small tumours decreases from proximal to distal, and therefore from the duodenum to the ileum. The histological types differ in terms of prevalence according to the affected segment, with adenocarcinoma being the most frequent in the duodenum and jejunum and carcinoid tumour in the ileum. Diagnosis is challenging due to clinical non-specificity, low prevalence and a low level of suspicion. Schwannomas are typically benign tumours that arise from Schwann's cells and are rarely found in the small intestine. It is even more rare to find them together with another histological type, namely adenocarcinoma. No cases have been reported in the literature of these lesions occurring in the small intestine simultaneously. Further studies are needed to clarify the underlying pathophysiology of these synchronous tumours. The authors present the case of an 86-year-old female patient admitted for high intestinal subocclusion, with refractory vomiting and involuntary weight loss. Two synchronous lesions in the digestive tract were identified: an adenocarcinoma in the duodenum and a schwannoma in the ileum. The patient underwent surgical resection of both lesions. A high level of suspicion combined with a multidisciplinary approach is necessary for timely diagnosis and surgical resolution. LEARNING POINTS: Small bowel neoplasms are rare and clinically non-specific; in addition, diagnosis is difficult due to imaging artifacts and tumour inaccessibility for biopsy for definitive histological diagnosis.Gastrointestinal schwannomas are rare and the pathophysiology of synchrony with other histological subtypes remains to be clarified.A multidisciplinary approach from the beginning is important for a timely diagnosis and better outcome.

3.
Nat Commun ; 6: 7889, 2015 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-26243146

RESUMO

The evolutionary conserved NSL complex is a prominent epigenetic regulator controlling expression of thousands of genes. Here we uncover a novel function of the NSL complex members in mitosis. As the cell enters mitosis, KANSL1 and KANSL3 undergo a marked relocalisation from the chromatin to the mitotic spindle. By stabilizing microtubule minus ends in a RanGTP-dependent manner, they are essential for spindle assembly and chromosome segregation. Moreover, we identify KANSL3 as a microtubule minus-end-binding protein, revealing a new class of mitosis-specific microtubule minus-end regulators. By adopting distinct functions in interphase and mitosis, KANSL proteins provide a link to coordinate the tasks of faithful expression and inheritance of the genome during different phases of the cell cycle.


Assuntos
Mitose , Proteínas Nucleares/metabolismo , Fuso Acromático/metabolismo , Animais , Proteínas de Ciclo Celular/metabolismo , Drosophila melanogaster , Células HEK293 , Células HeLa , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Proteínas Associadas aos Microtúbulos/metabolismo , Microtúbulos/metabolismo , Xenopus laevis , Proteína ran de Ligação ao GTP/metabolismo
4.
Appl Neuropsychol ; 17(2): 153-9, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20467957

RESUMO

Exposure to environmental toxins, such as pesticides, has been shown to have adverse effects in humans, particularly neurological effects. Cases of acute pesticide poisoning occur less frequently and are less well documented; specific deficits (e.g., in processing speed, working memory) have not consistently been discussed. This is a case study of a preschooler who underwent a neuropsychological assessment due to a pesticide poisoning. His parents reported attention, speech, social, and gross and fine motor concerns after the poisoning. A number of methods and measures were used, including observational data, neuropsychological, and behavioral and social-emotional measures. Consistent with past research, results from the assessment demonstrated the subtle and not-so-subtle effects of acute pesticide poisoning. Implications of the findings are discussed.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/induzido quimicamente , Transtornos do Comportamento Infantil/induzido quimicamente , Transtornos Cognitivos/induzido quimicamente , Praguicidas/intoxicação , Intoxicação/psicologia , Desempenho Psicomotor/efeitos dos fármacos , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtornos do Comportamento Infantil/psicologia , Pré-Escolar , Transtornos Cognitivos/psicologia , Humanos , Masculino , Testes Neuropsicológicos , Intoxicação/diagnóstico
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