Fatal Neonatal Intoxication From Cutaneous Cade Oil: A Case of Multivisceral Failure.

Juniperus oxycedrus is a plant whose branches and wood are used to extract cade oil. This oil is widely used in traditional Moroccan medicine for its analgesic, digestive, bronchopulmonary, and dermatological properties. However, it contains toxic phenols like guaiacol and cresol, which can cause serious side effects across various organ systems, including renal, hepatic, cardiac, pulmonary, neurological, gastrointestinal, dermatological, hematological, and metabolic. We report the case of a newborn hospitalized in neonatal intensive care at Mohammed VI University Hospital in Oujda, Morocco, following cutaneous exposure to cade oil. The newborn was admitted with acute cardiovascular shock, rapidly progressing to multiorgan failure. Despite intensive resuscitation measures, the patient died on the second day of hospitalization.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

PURPOSE: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. METHODS: By international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro. RESULTS: In accordance with previous observations, de novo heterozygous missense variants in the BTB domain region led to a severe developmental and epileptic encephalopathy in 16 individuals. Now, we also identified de novo missense variants in the GTPase domain in 6 individuals with apparently more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. Furthermore, we observed biallelic splice-site and truncating variants in 9 families with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well. CONCLUSION: By identifying genotype-phenotype correlations regarding location and consequences of de novo missense variants in RHOBTB2 and by identifying biallelic truncating variants, we further delineate and expand the molecular and clinical spectrum of RHOBTB2-related phenotypes, including both autosomal dominant and recessive neurodevelopmental disorders.

Leclercia adecarboxylata invasive infection in a patient with Hirschsprung disease: A case report.

INTRODUCTION: Leclercia adecarboxylata is a ubiquitous aerobic, motile, gram-negative bacilli. The human gastro-intestinal tract is known to harbor this rarely opportunistic microorganism. We describe a rare case of invasive infection with a gastrointestinal starting point due to L. adecarboxylata in a patient with Hirschsprung disease. CASE REPORT: It is about a newborn female who was admitted on the 3rd day of life to the neonatal intensive care unit for intestinal obstruction. On the 9th day of life, while managing the neonatal obstruction, the patient developed febrile peaks. Cytobacteriological examination of cerebrospinal fluid, blood cultures and culture of umbilical vein catheter allowed the exclusive isolation of Leclercia adecarboxylata. It was producing extended spectrum beta-lactamase and was treated with intravenous imipenem. After favourable evolution, the patient was transferred to the pediatric surgery department. There, she was diagnosed with Hirschsprung disease. DISCUSSION: Knowledge of the route of transmission of L. adecarboxylata is limited and the possible source of the infection is unclear. However, the authors describe three hypotheses of contamination of our propositus. In our patient, one or more of these routes of contamination would be possible. Indeed, bacteremia could occur as a result of a bacterial translocation across the mucosal barrier of the colon altered by Hirschsprung disease, antibiotic use and feeding practices. CONCLUSION: Infection with L. adecarboxylata revealed a wide range of infection. It has only recently been acknowledged as an emerging pathogen. Further studies of the pathogenesis and risk factors are required.

Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges.

BACKGROUND: Biobanks are highly organized infrastructures that allow the storage of human biological specimens associated with donors' personal and clinical data. These infrastructures play a key role in the development of translational medical research. In this context, we launched, in November 2015, the first biobank in Morocco (BRO Biobank) in order to promote biomedical research and provide opportunities to include Moroccan and North African ethnic groups in international biomedical studies. Here, we present the setup and the sample characteristics of BRO Biobank. METHODS: Patients were recruited at several departments of two major health-care centers in the city of Oujda. Healthy donors were enrolled during blood donation campaigns all over Eastern Morocco. From each participant, personal, clinical, and biomedical data were collected, and several biospecimens were stored. Standard operating procedures have been established in accordance with international guidelines on human biobanks. RESULTS: Between November 2015 and July 2020, 2446 participants were recruited into the BRO Biobank, of whom 2013 were healthy donors, and 433 were patients. For healthy donors, the median age was 35 years with a range between 18 and 65 years and the consanguinity rate was 28.96%. For patients, the median age was 11 years with a range between 1 day and 83 years. Among these patients, 55% had rare diseases (hemoglobinopathies, intellectual disabilities, disorders of sex differentiation, myopathies, etc.), 13% had lung cancer, 4% suffered from hematological neoplasms, 3% were from the kidney transplantation project, and 25% had unknown diagnoses. The BRO Biobank has collected 5092 biospecimens, including blood, white blood cells, plasma, serum, urine, frozen tissue, FFPE tissue, and nucleic acids. A sample quality control has been implemented and suggested that samples of the BRO Biobank are of high quality and therefore suitable for high-throughput nucleic acid analysis. CONCLUSIONS: The BRO Biobank is the largest sample collection in Morocco, and it is ready to provide samples to national and international research projects. Therefore, the BRO Biobank is a valuable resource for advancing translational medical research.

How thoracic surgeon manage tracheal tumors in African country? (Case series).

INTRODUCTION: Tracheal tumors are a rare pathological entity whose diagnosis is usually delayed by clinical latency. Surgery, which consists of a tracheal resection-anastomosis with or without reconstructive reconstruction, remains the treatment that ensures the best long-term survival. METHODS: This is a retrospective study about 8 patients admitted in the department of thoracic surgery of Hassan II's university hospital of Fes for tracheal tumors management during 7 years time (December 2010 to December 2017). RESULTS: There were 6 men and 2 women with an average age of 44.4 years ranged from 17 to 65 years, 4 were smokers. Dyspnea was the main trigger sign. Seven (7) have undergone bronchial fibroscopy diagnostic with a finding of budding process in 5 patients, the middle of the trachea is often concerned in 3 patients, obstructing the lumen of the trachea in almost all patients. The treatment in all patients was surgical with an intubation via the operative field, 4 trachea resection-anastomosis, 4 plasty (Lateral resection with V plasty, Kergin's plasty, Mattey's tracheobronchial anastomosis and widened V-resection to the carina). The most common histological type in our series was Adenoid Cystic Carcinoma in 2 of our patients. For the other patients we have found squamous cell carcinoma (1 case), adenocarcinoma (1 case), atypical carcinoid tumor (1 case), low grade mucoepidermoid carcinoma (1 case), an adenoma pleomorph (1 case) and endotracheal goiter (1 case). The operative follow-up was simple in 7 of our patients, all of whom underwent post-operative fibroscopy within an average of 9 days. Two cases of post-operative recurrent palsy had been observed, all of which had progressed well under treatment. We have noted 2 deaths, including one at day 4 post-operative, and the other died from complications of post-radiation tracheal stenosis. Back to 32 months' average follow-up, we have enregistered a case of a distant relapse by cervical lymph node metastasis in one patient, 5 years after surgery. CONCLUSION: Primary tumors of the trachea remain of reserved prognosis with 5-year survival of 57% of all histological types combined. Computed tomodensitometry and tracheobronchial fibroscopy remain the means of reference exploration in the diagnosis and assessment of surgical resectability.

[Congenital factor VII deficiency: about two family cases]. / Déficit congénital en facteur VII de coagulation: à propos de deux cas familiaux.

Factor VII deficiency is rare, with an estimated prevalence rate of 1/1,000,000. It is transmitted as an autosomal recessive trait. It can cause simple nosebleeds up to cerebral hemorrhage. Our study aims to focus on the clinical features and the importance of screening in patients with this rare deficit. We report the cases of two brothers with this deficit. Child aged 8 years, born to non-consanguineous marriage who was the youngest of two children. He had a history of post-circumcision bleeding and was admitted to our Department for the treatment of recurrent nosebleeds occurred over the last 4 years. Screening tests of hemostasis showed low Prothrombin (PT), normal Activated thromboplastin time (ATT), while factor assay revealed factor VII deficiency with a rate of 26%. The patient underwent spaced fresh frozen plasma (FFP) transfusions due to nosebleeds and wounds. Family screening was not performed. The eldest brother, aged 11 years, presented with very abundant nosebleeds. Somatic examination was unremarkable. Given his history, the patient underwent factor VII assay revealing a rate of 55% and parent screening was scheduled. The diagnosis of congenital factor VII deficiency in a patient motivates family screening in order to perform screening tests in other carriers of factor VII deficiency. This would avoid severe manifestations, even fatal, considering that studies have not shown a correlation between factor VII rate and the severity of patient's status.