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Background: Rare genetic disorders may result in death before a definitive clinical diagnosis is established. Aim: This study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare genetic disorders. Results: Six couples who experienced child loss due to rare genetic disorders, seen by the primary author at genetic evaluation and counseling sessions, were retrospectively analyzed. Four out of 6 couples reported consanguinity. Exome and genome sequencing were performed for the parents. Carrier status of two rare lethal metabolic disorders was confirmed in one consanguineous couple. Three couples were carriers of 3 other rare diseases. Variants of LYST, MPV17, HEXB, ITGB4, CD3E, ASPM, TK2, COL11A2, and LAMB3 genes were identified. Six out of 10 were pathogenic variants, out of which 4 correlated with the demised children's phenotypes. One couple was negative for pathogenic variants. The last couple did not undergo genetic testing since they were beyond the fertile window. Conclusion: Appropriate parental genetic evaluation and counseling are mandatory for selecting the right genetic test to certify the diagnosis postmortem, by virtue of molecular autopsy by proxy. Clarifying a rare disorder diagnosis can help couples to avoid recurrence and plan early for their next pregnancies.
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OBJECTIVE: The study aimed to determine the current practice of thoracic surgeons in the management of primary spontaneous pneumothorax in Saudi Arabia and to compare the results with the British Thoracic Society guidelines. MATERIAL AND METHODS: This is a questionnaire-based study. The questionnaire included 41 questions and was directed to those involved in the management of primary spontaneous pneumothorax in Saudi Arabia; namely thoracic, cardiac, and general surgeons. It was distributed electronically through email. Out of 47 registered surgeons at the time of the study, 47 responses were obtained with a 100% response rate. RESULTS: Among the participants, 39 were thoracic surgeons. It was noted that all surgeons agreed on ordering an initial chest radiograph and most would order an additional view. Also, approaches varied regarding grading systems used. While 26% of the respondents use the British Thoracic Society grading system, 16% follow the American College of Chest Physicians system, and the rest chose other parameters. The majority of surgeons would choose a chest tube of a size not greater than 28 Fr for initial placement. As for video-assisted thoracoscopic surgery, we noted that 55% of the respondents opted for 3 ports, while 36% would place 2 ports. CONCLUSION: Primary spontaneous pneumothorax is a common condition managed by thoracic surgeons. Various guidelines were established to guide practice. Our study showed some variability in practice which could result in serious medico-legal consequences and can affect the careers of thoracic surgeons. We hope that our results will shed light upon variabilities to influence proper directed management.
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Ectopic breast tissue (EBT) is relatively common and can occur along the milk line or mammary ridge and often outside this line. We report a case of a female patient presenting with a suprapubic mass for 2 years, found later to be EBT containing a fibroadenoma. We believe this is a very rare finding. Moreover, we highlight the importance of considering EBT in the differential diagnoses of soft tissue masses.
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Doenças Mamárias , Neoplasias da Mama , Fibroadenoma , Axila , Mama/diagnóstico por imagem , Mama/cirurgia , Neoplasias da Mama/diagnóstico por imagem , Feminino , Fibroadenoma/diagnóstico por imagem , Fibroadenoma/cirurgia , HumanosRESUMO
Multiple primaries in patients with prostate cancer are uncommon. We report a case of prostate adenocarcinoma who did not receive any form of treatment, diagnosed 7 months later with colon adenocarcinoma. The patient underwent right extended hemicolectomy and recovered well. He is planned to receive adjuvant chemotherapy and hormonal therapy. Management of such cases can present a dilemma and multiple factors must be taken into consideration, particularly when the first primary tumour is still active.
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Adenocarcinoma , Neoplasias do Colo , Neoplasias da Próstata , Adenocarcinoma/tratamento farmacológico , Adenocarcinoma/cirurgia , Neoplasias do Colo/tratamento farmacológico , Humanos , Masculino , Neoplasias da Próstata/tratamento farmacológicoRESUMO
This is a case series of five patients with acute abdomen requiring surgery who tested positive for coronavirus disease 2019 (COVID-19) and were asymptomatic, with the purpose of detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in peritoneal fluid. Nasopharyngeal swab was done as a prerequisite for admission or prior to admission as part of random testing. Two methods of viral testing were employed: Xpert® Xpress SARS-CoV-2 (rapid test) and real-time reverse transcription polymerase chain reaction (RT-PCR). Either or both tests were done, with the former performed for patients requiring surgery immediately. Surgery was performed within 24-36 h from admission. Peritoneal fluid swabs were obtained for the detection of SARS-CoV-2 using RT-PCR test. Swabs were immediately placed in viral transfer media and delivered to the public health laboratory in an ice bag. SARS-CoV-2 was not detected in peritoneal swabs. Due to the limited number of patients, further studies are required; yet, protective measures should still be taken by surgeons when dealing with COVID-19 cases.
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OBJECTIVES: To investigate whether the incidence of acute appendicitis increases in summer and whether complicated cases present more in summer. METHODS: A single-center cross-sectional, retrospective study on 697 cases of appendicitis admitted in the year 2018. Inclusion criteria: patients admitted with acute appendicitis who underwent appendectomy of all ages. Exclusion criteria: conservative management. Analysis was performed using Microsoft Excel. Pearson correlation coefficient was calculated to assess the correlation between monthly incidence of appendicitis and mean temperature in that month. RESULTS: Fifty-one patients who were managed conservatively were excluded. Accordingly, 646 patients were included. Ages ranged from three to 77 years. Males comprised the majority (500, 77.4%). Gangrenous, perforated, and purulent appendices were regarded as complicated appendicitis. The highest number of cases were admitted in summer (234), comprising 36.2% of cases. Complicated cases were equal to 65, of which 23 (35.4%) were admitted in summer and 30 (46.2%) in winter. The highest number of cases was during the month of July (68), while the lowest (40) was during February. This corresponded to the highest recorded mean temperature (36.2°C) and second lowest (19.8°C), respectively. Moderate positive correlation (Pearson's R 0.5183) between the monthly incidence of appendicitis and the mean temperature is noted. CONCLUSION: More cases of appendicitis were noted during summer. Monthly incidence correlated positively with the temperature. Larger numbers over several years are needed to draw better conclusions and reach the possible causes behind such variation.
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COVID-19 mainly causes pulmonary disease. Involvement of gastrointestinal and hepatobiliary systems, among other systems, has been reported. We report a case of acute pancreatitis in a patient with resolving COVID-19 pneumonia. History taking and investigations excluded other causes of pancreatitis. This case demonstrates the possibility of pancreatic injury in patients with COVID-19, in line with previously reported similar cases. We believe that it is imperative to screen patients presenting with acute pancreatitis for SARS-CoV-2. It is also important to take into consideration that patients with a complicated course who require an invasive procedure such as drainage might pose a risk of transmission to the operating surgeon or interventionist.
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COVID-19/diagnóstico , Pancreatite/virologia , COVID-19/diagnóstico por imagem , Tratamento Conservador , Diagnóstico Diferencial , Feminino , Humanos , Pulmão/diagnóstico por imagem , Pessoa de Meia-Idade , Pancreatite/diagnóstico por imagem , Pancreatite/terapia , SARS-CoV-2 , Tomografia Computadorizada por Raios XRESUMO
This is a case of a 14-year-old woman diagnosed with acute pancreatitis based on history and laboratory investigations. CT scan confirmed the diagnosis of acute pancreatitis along with the presence of two bezoars in the stomach and proximal jejunum. Gastroscopy showed a large trichobezoar with difficult endoscopic extraction. Accordingly, the patient underwent laparotomy, gastrostomy and enterotomy with successful removal of the large gastric and jejunal daughter bezoars. Following surgery, pancreatitis resolved and investigations returned to normal. Child psychiatry consultation was sought, and she was diagnosed with trichotillomania and trichophagia.
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Bezoares/complicações , Pancreatite/etiologia , Estômago , Tricotilomania/complicações , Dor Abdominal/etiologia , Adolescente , Bezoares/cirurgia , Feminino , Humanos , Tomografia Computadorizada por Raios XRESUMO
This is a case of an 8-year-old girl who was previously healthy and presented with unresponsiveness on a background of fever that resolved within 2 days of onset. History was significant for recurrent dental abscesses requiring drainage. Imaging revealed what was unexpected: a brain overloaded with multiple space-occupying lesions and diffuse oedema. The patient was started on mannitol and dexamethasone in addition to antimicrobials. Her condition improved dramatically within few days. Multiple aspiration procedures were performed later and she recovered fully with minor deficits.