RESUMO
Isolated mitochondrial respiratory chain complex III deficiency has been described in a heterogeneous group of clinical presentations in children and adults. It has been associated with mutations in MT-CYB, the only mitochondrial DNA encoded subunit, as well as in nine nuclear genes described thus far: BCS1L, TTC19, UQCRB, UQCRQ, UQCRC2, CYC1, UQCC2, LYRM7, and UQCC3. BCS1L, TTC19, UQCC2, LYRM7, and UQCC3 are complex III assembly factors. We report on an 8-year-old girl born to consanguineous Iraqi parents presenting with slowly progressive encephalomyopathy, severe failure to thrive, significant delays in verbal and communicative skills and bilateral retinal cherry red spots on fundoscopy. SNP array identified multiple regions of homozygosity involving 7.5% of the genome. Mutations in the TTC19 gene are known to cause complex III deficiency and TTC19 was located within the regions of homozygosity. Sequencing of TTC19 revealed a homozygous nonsense mutation at exon 6 (c.937C > T; p.Q313X). We reviewed the phenotypes and genotypes of all 11 patients with TTC19 mutations leading to complex III deficiency (including our case). The consistent features noted are progressive neurodegeneration with Leigh-like brain MRI abnormalities. Significant variability was observed however with the age of symptom onset and rate of disease progression. The bilateral retinal cherry red spots and failure to thrive observed in our patient are unique features, which have not been described, in previously reported patients with TTC19 mutations. Interestingly, all reported TTC19 mutations are nonsense mutations. The severity of clinical manifestations however does not specifically correlate with the residual complex III enzyme activities.
Assuntos
Códon sem Sentido , Complexo III da Cadeia de Transporte de Elétrons/deficiência , Insuficiência de Crescimento/genética , Transtornos do Desenvolvimento da Linguagem/genética , Proteínas de Membrana/genética , Doenças Mitocondriais/genética , Encefalomiopatias Mitocondriais/genética , Proteínas Mitocondriais/genética , Adolescente , Adulto , Criança , Consanguinidade , Progressão da Doença , Complexo III da Cadeia de Transporte de Elétrons/genética , Insuficiência de Crescimento/patologia , Insuficiência de Crescimento/fisiopatologia , Feminino , Variação Genética , Genótipo , Homozigoto , Humanos , Lactente , Transtornos do Desenvolvimento da Linguagem/patologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Mitocôndrias/genética , Mitocôndrias/patologia , Doenças Mitocondriais/patologia , Doenças Mitocondriais/fisiopatologia , Encefalomiopatias Mitocondriais/patologia , Encefalomiopatias Mitocondriais/fisiopatologia , Linhagem , Fenótipo , Retina/metabolismo , Retina/patologiaRESUMO
We present the case of a 59-year-old woman who developed a right thigh pleomorphic sarcoma with rhabdomyoblastic differentiation 6 years following radiotherapy for a vaginal squamous cell carcinoma. The overall 5-year survival for a gynaecological malignancy is more than 80 % and as overall cancer survivorship and life expectancy improves, the incidence of radiation-induced malignancy is increasing (Bjerkehagen et al., 2013). As the prognosis of those malignancies is usually poor, clinicians must have a high index of suspicion to try to detect these cases early.
RESUMO
BACKGROUND: Despite widespread support for reduced fasting protocols prior to anesthesia, the traditional "fast from midnight" (FFMN) remains widely employed. This study implemented a pilot preoperative fasting reduction program for patients booked for acute surgery in the Department of General Surgery at a busy metropolitan tertiary hospital, including use of an electronic health record (EHR)-based solution, aiming to measure effect on fasting times and use of intravenous fluid (IVF). METHODS: A pilot program was implemented in August 2021 in the Emergency General Surgery (EGS) unit at the Royal Melbourne Hospital, Australia. This included a new smart phrase within the EHR (EU2WU6: Eat until 2, drink water until 6) and an education campaign. Adult patients who underwent preoperative fasting between September 1 and December 31, 2021, were screened. Uptake of the protocol was recorded. Further, total fasting times (TFT) and IVF use were recorded. Potential impact with varying levels of protocol uptake was modeled. RESULTS: Uptake of EU2WU6 increased from 0% to 80%. TFT and total time on IVF (TT-IVF) were lower using EU2WU6 (TFT 7 hours vs. 13 hours, p < 0.001; TT-IVF 3 hours vs. 8 hours, pâ¯<â¯0.001). Proportion of patients requiring fluid overnight when using EU2WU6 was lower (18/45 vs. 34/50, pâ¯=â¯0.0062). Hospitalwide yearly savings, with 100% application of EU2WU6, were projected at 2,050 bags of IVF (at a cost savings of A$2,296), 10,251 minutes for physicians, and 20,502 minutes for nurses. CONCLUSION: The pilot preoperative fasting reduction program successfully reduced disparity between evidence and clinical practice.
Assuntos
Anestesia , Jejum , Humanos , Adulto , Tecnologia , Austrália , Cuidados Pré-Operatórios/métodosRESUMO
CONTEXT.: Mesothelioma of the tunica vaginalis testis (TVT) is an extremely rare form of mesothelioma. OBJECTIVE.: To compare the clinical and molecular characteristics of mesothelioma of the TVT with those of mesothelioma at other more common sites, including the relationship with exposure to asbestos. DESIGN.: We present clinical and pathological data for 9 cases of primary TVT mesothelioma. We performed whole-genome sequencing on 3 cases for the first time. RESULTS.: The majority (7 of 9 cases) of TVT mesotheliomas were epithelioid, with the remaining 2 cases showing biphasic morphology. Morphology and immunohistochemical profiles were indistinguishable from mesothelioma elsewhere. Asbestos exposure was documented for 7 of the 9 cases, with no information for 2 cases. The 3 TVT mesothelioma cases that underwent whole-genome sequencing displayed a mutational profile similar to that of mesothelioma at other sites, including NF2 and TP53 mutations. CONCLUSIONS.: The clinical and molecular profile of TVT mesothelioma is similar to that of mesothelioma elsewhere.
Assuntos
Amianto , Mesotelioma Maligno , Mesotelioma , Neoplasias Testiculares , Masculino , Humanos , Amianto/efeitos adversos , Mesotelioma/genética , Neoplasias Testiculares/genética , Neoplasias Testiculares/patologiaAssuntos
Transtorno Autístico/genética , Deleção Cromossômica , Deficiências do Desenvolvimento/genética , Proteínas/genética , Adolescente , Sequência de Bases , Inversão Cromossômica , Hibridização Genômica Comparativa , Proteínas do Citoesqueleto , Humanos , Hibridização in Situ Fluorescente , Masculino , Fatores de Transcrição , Translocação GenéticaRESUMO
We present a severe case of vanishing gastroschisis resulting in intrauterine death with post mortem examination findings. Gastroschisis is defined as a full thickness paraumbilical abdominal wall defect associated with evisceration of fetal intestine. It is almost always right-sided. Vanishing gastroschisis is an extremely rare form of gastroschisis that results in short bowel syndrome due to exteriorized bowel disconnected from the lumen of the rest of the bowel proximally as well as distally in association with partial or complete closure of the abdominal wall. This case is only the second published case of vanishing gastroschisis resulting in intrauterine fetal death including post mortem examination findings. It highlights the importance of being aware of this rare form of gastroschisis and provides insights regarding pathogenesis, ultrasound surveillance, and antenatal counseling.