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Introduction: Undifferentiated embryonal sarcoma of the liver (UESL) is an aggressive tumor. There is no established treatment, and it is an uncommon tumor in adults. Treatment usually involves a combination of surgery, chemotherapy, and occasionally liver transplantation (LT). The role of LT in patients with irresectable UESL merits exploration. Case Description: A 20-year-old boy with a large palpable abdominal mass, shortness of breath, and weight loss presented to our clinic. His computed tomography scan showed showed a large cystic lesion measuring 11.5 × 22.7 × 23 cm, predominantly involving the left lobe and right anterior sector, with a biopsy consistent with UESL. The tumor was abutting to the right hepatic vein, with bland main portal vein thrombosis. Due to an irresectable tumor and deteriorating clinical condition, living donor LT was performed. The patient remains in good health at 16 months of follow-up. Practical Implication: In carefully selected patients with UESL, when other options are not feasible, LT might prolong survival and improve quality of life.
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BACKGROUND: Causes of vocal cord palsy (VCP) can be identified even before its clinical presentation if a radiologist has knowledge about signs of vocal cord palsy, its various mimics and the anatomy of recurrent laryngeal nerve. Objectives are to know the signs and underlying causes leading to VCP and various mimics which may lead to the false positive diagnosis of VCP. METHODS: A retrospective cross-sectional pilot study comprising 54 patients with vocal cord palsy proven by IDL was conducted. 3 groups were identified. The first group comprised missed VCP on cross-sectional imaging. The second group was, of missed cause of VCP in patients with clinical diagnoses. The third group was patients with mimics of the palsy. RESULTS: Thirteen (76.5%) patients had missed diagnosis due to lack of knowledge of signs and 23.5% due to lack of time, overwork and tiredness. A vigilant search for the cause was not done in 31.6% of patients and in 68.4% of patients, the cause was identified but not correlated. A total of 8 patients had false positive diagnoses due to failure to differentiate from mimics. CONCLUSIONS: There is an increasing trend of missed diagnosis of vocal cord palsy on cross-sectional imaging in patients with established clinical diagnosis due to a lack of knowledge of VCP signs and missed causes along the course of recurrent laryngeal nerve.
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Parálisis de los Pliegues Vocales , Humanos , Parálisis de los Pliegues Vocales/diagnóstico por imagen , Parálisis de los Pliegues Vocales/etiología , Estudios Retrospectivos , Proyectos Piloto , Nervio Laríngeo Recurrente , Radiólogos , Tiroidectomía/efectos adversosRESUMEN
PURPOSE: Textbook outcome (TO) is a composite measure of outcome and provides superior assessment of quality of care after surgery. TO after major living donor hepatectomy (MLDH) has not been assessed. The objective of this study was to determine the rate of TO and its associated factors, after MLDH. METHODS: This was a single center retrospective review of living liver donors who underwent MLDH between 2012 and 2021 (n = 1022). The rate of TO and its associated factors was determined. RESULTS: Among 1022 living donors (of whom 693 [67.8%] were males, median age 26 [range, 18-54] years), TO was achieved in 714 (69.9%) with no donor mortality. Majority of donors met the cutoffs for individual outcome measures: 908 (88.8%) for no major complications, 904 (88.5%) for ICU stay ≤ 2 days, 900 (88.1%) for hospital stay ≤ 10 days, 990 (96.9%) for no perioperative blood transfusion, 1004 (98.2%) for no 30-day re-admission, and 1014 (99.2%) for no post-hepatectomy liver failure. Early donation era (before streamlining of donor operative pathways) was associated with failure to achieve TO [OR 1.4, CI 1.1-1.9, P = 0.006]. TO was achieved in 506/755 (67%) donors in the early donation era versus 208/267 (77.9%) in the later period (P = 0.001). CONCLUSION: Despite zero mortality and low complication rate, TO was achieved in approximately 70% donors. TO was modifiable and improved with changes in donor operative pathway.
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Trasplante de Hígado , Donadores Vivos , Masculino , Humanos , Adulto , Femenino , Hepatectomía/efectos adversos , Recolección de Tejidos y Órganos/efectos adversos , Trasplante de Hígado/efectos adversos , Hígado , Estudios Retrospectivos , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiologíaRESUMEN
Autosomal recessive limb-girdle muscular dystrophy-1 (LGMDR1) is an autosomal recessive disorder characterized by progressive weakness of the proximal limb and girdle muscles. Biallelic mutations in CAPN3 are reported frequently to cause LGMDR1. Here, we describe 11 individuals from three unrelated consanguineous families that present with typical features of LGMDR1 that include proximal muscle wasting, weakness of the upper and lower limbs, and elevated serum creatine kinase. Whole-exome sequencing identified a rare homozygous CAPN3 variant near the exon 2 splice donor site that segregates with disease in all three families. mRNA splicing studies showed partial retention of intronic sequence and subsequent introduction of a premature stop codon (NM_000070.3: c.379 + 3A>G; p.Asp128Glyfs*15). Furthermore, we observe reduced CAPN3 expression in primary dermal fibroblasts derived from an affected individual, suggesting instability and/or nonsense-mediated decay of mutation-bearing mRNA. Genome-wide homozygosity mapping and single-nucleotide polymorphism analysis identified a shared haplotype and supports a possible founder effect for the CAPN3 variant. Together, our data extend the mutational spectrum of LGMDR1 and have implications for improved diagnostics for individuals of Pakistani origin.
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Calpaína , Distrofia Muscular de Cinturas , Calpaína/genética , Humanos , Proteínas Musculares/genética , Distrofia Muscular de Cinturas/diagnóstico , Distrofia Muscular de Cinturas/genética , Mutación , Pakistán , ARN Mensajero/genéticaRESUMEN
OBJECTIVE: To determine a cut-off value of Chest CT severity score (CT-SS) in order to discriminate between the clinical types of COVID-19 pneumonia. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Department of Radiology, Shifa International Hospital, from 1st March to June 30th, 2020. METHODOLOGY: One hundred and three consecutive patients' RT PCR positive for COVID-19 were included. Two consultant radiologists, with experience of 7 to 10 years in body imaging, evaluated their HRCT studies in consensus and calculated the CT severity score. A scoring of all 20 individual regions in each lung were assigned by the radiologists attributing a score of 0, 1 or 2 to each region, if parenchymal opacification was none, less than 50%, or 50% or more, respectively. The CT severity score was a summation of scores of all 20 regions of both lungs combined with a range of 0 to 40 points. The scores were compared for clinically mild and severe disease. RESULTS: Significant differences were noted regarding the scoring of lung opacity in mild and severe groups in each lung segment, p <0.05. The most significantly involved segments were right lower lobe's medial and lateral basal segment, left upper lobe's superior lingular segment and left lower lobe's medial basal and lateral basal segments. To discriminate mild versus severe disease, CT-SS threshold value turned out to be 19.5 Conclusion: CTSS may be of value for a prompt and objective means of assessing the degree of severity and disease burden in lungs. Key Words: COVID-19, COVID-19 diagnosis, Pneumonia, Novel coronavirus, CT severity score, Respiratory tract infection, Triage, Pandemic, RT-PCR, SARS-COV 2, Outbreak.