Téloméropathies de recrutement hématologique : étude de 15 cas

IntroductionTelomeres are composed of a repeated sequence of double-stranded nucleotides TTAGGG and numerous proteins including the Shelterin complex. Their main role is to maintain the stability of the genome during cell replication through a mechanism of copying the repeted sequence by the telomerase complexe. All the diseases involving a deregulation of this complex are now grouped together under the term telomeropathies. They are difficult to diagnose and manage. Our objective was to describe the clinico-biological characteristics and treatments used, in patients affected by telomeropathies previously seen by an hematologist followed at the Lille University Hospital Center.MethodsThis is a retrospective, single-center study carried out within the department of internal medicine-clinical immunology, Reference center for rare autoimmune and systemic diseases at Lille University Hospital Center between 2005 and 2020 including all patients followed for telomeropathy.ResultsProbands and relatives were included. Fifteen patients were studied from 10 independant families. Sixty percent had an heterozygous TERC gene mutation. Sixty seven percent had haematological diseases including macrocytosis, anemia and/or thrombocytopenia, 20 % had a fibrotic hepatic disease, 27 % had a fibrotic pulmonary disease. Lymphocyte immunophenotyping showed a double negative T lymphocyte population with γδ TCR expression in 5 (33 %) patients. Forty-seven percent of the patients had not received any treatment. Twenty-seven percent were on androgen therapy. Twenty percent had received cyclosporine and 13 % anti-lymphocyte serum in the context of initial misdiagnosis.ConclusionIt is important to be aware of the complexity of telomeropathies, a differential diagnosis of immune aplastic anemia, in order to optimize management and avoid inappropriate treatments. Allografting of hematopoietic stem cells is the only potentially curative treatment. Our analysis found particularities in immunophenotyping lymphocyte not previously described to our knowledge, whose physiopathological imputability remains to be demonstrated.     

La mort par infarctus du myocarde chez le sujet jeune : étude de 312 cas de mort subite

Sudden cardiac death in young is seen as a dramatic phenomenon requiring knowledge of its impact. We aim to study the epidemiological characteristics of sudden cardiac ischemic death in young, and to discuss his involvement in the occurrence of death. We performed a retrospective cohort study using autopsy data from the department of forensic medicine of the University Hospital of Fattouma Bourguiba, Monastir-Tunisia. A review of all autopsies performed during 23 years was done. In each case, clinical information and circumstances of death were obtained. We have included all sudden death in persons aged between 1 year and 35 years for the male and from one year to 45 years for female. We collected 312 cases of sudden death during the studied period. The collected data were processed using SPSS 20. The significance level was set at 0.05. Thirty-two cases of cardiac ischemic sudden death have been collected. Myocardial infarction was the second cause of sudden death in young patients. There was a male predominance. The most affected subjects were aged between 25–45 years. The death occurred more frequently at rest. Coronary artery disease has been discovered in twenty-four cases (75%). The myocardial infarction occurred on healthy coronary arteries in eight cases. An anomalous course of coronary arteries, in particular myocardial bridging, was found in eight cases (25%). Toxicological screening was negative in all cases. Identifying epidemiological characteristics of sudden cardiac ischemic death in this population is important for guiding approaches to prevention that must be based on dietary hygienic measures and the control of cardiovascular risk factors.     

Aspects cliniques et thérapeutiques du prolapsus rectal: étude de 30 cas

Introduction

The rectal prolapse is defined by the intussusception of the final portion of the digestive tract. Several surgical techniques were reported to treat it. Currently the laparoscopic promontofixation became the standard of the rectal prolapse treatment. Through a retrospective study done in surgery A department, the authors analyze the therapeutic problems and show the benefice of laparoscopy (CL) vs. laparotomy (LP).

Material and methods

Thirty interventions were carried out, including 25 by LP: direct rectopexy in 11 cases associated one time with a sigmoid resection. Twelve patients had Orr and Loygue procedure, Altmeier and Delorme procedures in one time each and five patients had a laparoscopic promontofixation.

Results

Mortality was null in our series. The rate of morbidity was 17.3% in LP vs null out of CL the operational average duration was between one hour and 30 minutes (LP) vs two hours (CL). The average duration of stay was four days (LP) vs 48 hours (CL). The long-term results were excellent for the coelioscopy with 1-year follow-up. There were four recurrences in (LP) vs zero in (CL).

Conclusion

Our experience in laparoscopic treatment in rectal prolapse confirms that the laparoscopic promontofixation is effective, reliable and reproducible. The LP rectopexy seems to be a good alternative in unavailability of the CL.     

Un curieux cas de masse cardiaque : à propos d'un cas

BackgroundRetained foreign bodies are dreadful events associated with invasive procedures. Their occurrence implicate physical complications as well as serious professional and medico-legal consequences. Cases of retained surgical items, in the pericardial space, following cardiothoracic surgery are rare and their management is delicate as the risks of their removal must be thoroughly weighed against the complications of leaving them inside the chest.Case presentationWe report the case of a retained foreign body, discovered in an asymptomatic patient, on a routine medical check-up, 4 years after cardiac surgery.ConclusionsClinical and paraclinical manifestations of retained surgical foreign bodies are nonspecific. The progress of cardiac imaging means makes it possible to identify these rare foreign bodies with greater precision, and allows, with extreme caution, to monitor patients who are perfectly asymptomatic and who are reluctant to undergo surgery.     

Agénésie du tronc cœliaque : à propos d'un cas

Vascular anatomical variants in general, and of the celiac trunk (TC) in particular, are rarely reported in the literature because they are generally asymptomatic and detected incidentally by imaging examinations performed for other causes. We report a case of agenesis of the celiac trunk, with separate birth of its three branches directly from the abdominal aorta, discovered fortuitously during a CT scan performed as part of the extension assessment of colon adenocarcinoma in a woman. initially asymptomatic.     

Syndrome de fuite capillaire idiopathique : 2 cas cliniques de présentation trompeuse

IntroductionIdiopathic systemic capillary leak syndrome (ISCLS) also known as Clarkson syndrome is a rare and sudden life-threatening entity. Three consecutive phases are described. A first non-specific prodromal phase often manifests as “flu-like” symptoms and precedes capillary leak phase with major hypovolemic and distributive shock leading to serious and frequent multiorgan dysfunction syndrome (MODS). Severe hypovolemia contrasts with edema, and hemoconcentration with hypoalbuminemia. ISCLS is characterized by these two clinical and biological paradoxes. Subsequent recovery phase exhibits organ function restoration along with interstitial/intravascular volumes normalization. The latter occurs spontaneously and systematically in patients surviving from leak phase.ObservationsWe report here two ISCLS cases admitted in intensive care unit (ICU) both enhancing initial misdiagnosis possibly lowering prognosis and outcome. Our first 28-year-old female patient was admitted for « polycythemia vera » although hemoconcentration was attributable to hypovolemia. She presented circulatory arrest during the second bloodletting session and complicated with MODS. In and out ICU favorable outcome was noted on intravenous immunoglobulin therapy. A second 57-year-old male patient was admitted in ICU for severe “myositis” (myalgia and rhabdomyolysis) although rectified diagnosis retained compartment syndrome (muscular severe edema following capillary leak). Rapid and refractory hypovolemic shock appeared with subsequent MODS leading to death.ConclusionISCLS pathophysiology remains unknown but certainly implies transitory endothelial dysfunction. Impossibility of randomized controlled trial for this exceptional disease led to based-on-experience therapeutic guidelines implying symptomatic care (cardiac output surveillance, nephroprotection, prudent fluid intake, prudent vasoactive amine use) and specific therapies (intravenous aminophylline during severe flares). Although enhancing controversial and even deleterious effects during the acute phase, polyvalent immunoglobulins are effective for relapse prevention. Syndromic diagnosis is difficult, but its precocious finding constitutes a key-element in better outcome before organ failure.     

Anévrisme de la veine cave inférieure : à propos d'un cas

Venous aneurysms in general, and of the inferior vena cava in particular (IVC), are rarely reported in the literature because they are generally asymptomatic and detected incidentally following complications such as thrombosis and pulmonary embolism, an Inferior vena cava (IVC) aneurysm is detected by imaging examinations performed for other causes. We report a case of IVC aneurysm classified as type I according to Gradman and Steinberg discovered incidentally during a follow-up CT scan in an asymptomatic woman followed for endometrial adenocarcinoma treated 6 years ago.