Septic shock revealing boerhaave's syndrome a case report.

INTRODUCTION AND IMPORTANCE: Boerhaave's syndrome, recognized as spontaneous esophageal rupture, is an uncommon and perilous medical condition marked by the spontaneous tearing of the esophagus. This paper highlights the importance of an early diagnosis and its correlation to better outcomes for a rare pathology with high mortality. CLINICAL PRESENTATION: A 67-year-old female presenting with unexplored vomiting and hypertension, presented to the ER with a septic shock. The patient's clinical deterioration prompted emergency exploration, revealing a dilated esophagus with a 3-cm perforation. Despite surgical intervention, including suturing with a T-tube and esophageal exclusion, the patient succumbed to multiorgan failure. CLINICAL DISCUSSION: Boerhaave's syndrome, triggered by forceful vomiting, presents diverse clinical manifestations, making accurate diagnosis challenging. The characteristic triad of vomiting, pain, and subcutaneous emphysema is observed in a minority of cases, often overshadowed by acute respiratory distress. Diagnostic modalities include chest X-rays, contrast esophagography, and computed tomography, aiding in visualizing contrast leakage and confirming the diagnosis. The choice of surgical technique, ranging from esophageal suturing to esophagectomy, depends on the duration between rupture and surgery initiation. In this case, a bipolar esophageal exclusion was performed due to the patient's critical condition. CONCLUSION: Boerhaave's syndrome demands consideration in patients presenting with thoracic pain and vomiting, particularly in those with a pathological esophagus. Early diagnosis and surgical intervention remain pivotal in improving outcomes. Identification of hydro-pneumothorax in radiographic studies should prompt consideration of spontaneous esophageal rupture, highlighting the need for heightened clinical suspicion in nonspecific clinical scenarios.

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

BACKGROUND AND OBJECTIVES: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. Adjunct lysine reduction therapies reduce the accumulation of putative neurotoxic metabolites with the goal to improve developmental outcomes. Our objective was to examine the association between treatment with lysine reduction therapies and cognitive outcomes. METHODS: Participants were recruited from within the International Registry for Patients with Pyridoxine-Dependent Epilepsy from August 2014 through March 2021. The primary outcome was standardized developmental test scores associated with overall cognitive ability. The relationship between test scores and treatment was analyzed with multivariable linear regression using a mixed-effects model. A priori, we hypothesized that treatment in early infancy with pyridoxine and lysine reduction therapies would result in a normal developmental outcome. A sub-analysis was performed to evaluate the association between cognitive outcome and lysine reduction therapies initiated in the first six months of life. RESULTS: A total of 112 test scores from 60 participants were available. On average, treatment with pyridoxine and lysine reduction therapies was associated with a non-significant increase of 6.9 points (95% CI -2.7 to 16.5) on developmental testing compared to treatment with pyridoxine alone. For the sub-analysis, a total of 14 developmental testing scores were available from 8 participants. On average, treatment with pyridoxine and lysine reduction therapies in the first six months of life was associated with a significant increase of 21.9 points (95% CI 1.7 to 42.0) on developmental testing. DISCUSSION: Pyridoxine and lysine reduction therapies at any age was associated with mild improvement in developmental testing and treatment in early infancy was associated with a clinically significant increase in developmental test scores. These results provide insight into the mechanism of intellectual and developmental disability in PDE-ALDH7A1 and emphasize the importance of treatment in early infancy with both pyridoxine and lysine reduction therapies. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that in PDE-ALDH7A1, pyridoxine plus lysine reduction therapies compared to pyridoxine alone is not significantly associated with overall higher developmental testing scores, but treatment in the first six months of life is associated with significantly higher developmental testing scores.

Tinea capitis in school children from Mauritania: A comparative study between urban and rural areas.

INTRODUCTION: In Mauritania, only an investigation carried out 26 years ago allows to report epidemiological findings about tinea capitis in Nouakchott. The objective of this study was to reactualize the tinea capitis epidemiological, clinical and mycological profile in school children and to compare this profile in urban and rural area. PATIENTS AND METHODS: All subscribed students in targeted schools and present during the investigation were examined clinically before samples collection. Mycological diagnosis was made by direct examination and culture in Sabouraud Dextrose Agar with chloramphenicol and supplemented with cycloheximide. The results were considered positive when culture with the presence of dermatophytes was obtained. RESULTS: Prevalence of tinea capitis among school children was 10.50% and it was more important in rural area (12.21%) than in urban area (9.52%). The age group ranged between 6 and 8 years was the most affected (13.58%). According to the gender, male (11.46%) were more affected than female (9.62%). Trichophytic tinea were predominant and Trichophyton soudanense was more isolated followed by Trichophyton rubrum, Trichophyton schoenleinii and Microsporum audouinii.

Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome.

OBJECTIVE: To describe the epilepsy, neuropsychiatric manifestations, and neuroimaging findings in a group of patients with 22q11.2 DS, and to correlate the size of the deleted genetic material with the severity of the phenotype. METHODS: We retrospectively analyzed the medical records of 28 patients (21 pediatric patients and 7 adults) with a genetically confirmed diagnosis of 22q11.2 DS. Clinical data (epilepsy, neurological exam, neuropsychological and developmental assessment, and psychiatric disorders), neuroimaging, and cytogenetic tests were analyzed RESULTS: Of the 28 patients with 22q11.2 DS, 6 (21.4%) had epileptic seizures, 2 had symptomatic hypocalcemic seizures, 4 (14.2%) had a psychiatric disorder, which comprised of attention deficit hyperactivity disorder, autism spectrum disorder, psychosis, and mood disorder, and 17 (60.7%) had developmental delay. All patients with epilepsy had a developmental delay. Twelve patients underwent a neuropsychology assessment. Intellectual levels ranged from moderate intellectual disability (7/12, 58%) to average (5/12, 41.6%). Of the 16 patients, 6 (37.5%) had a normal brain, while 10 (62.5%) had abnormal neuroimaging findings. No significant correlation was found between the size of the deleted genetic material and the severity of the phenotype. CONCLUSION: 22q11.2DS patients are at high risk to develop epilepsy, neuropsychiatric manifestations, and structural brain abnormalities. This indicates that this defined genetic locus is crucial for the development of the nervous system, and patients with 22q11.2 DS have genetic susceptibility to develop epilepsy.

Evaluation of adherence to pediatric status epilepticus management guidelines in Saudi Arabia.

OBJECTIVE: To assess compliance with the 2017 Saudi pediatric status epilepticus management guidelines and to printout the main obstacle for adherence to the guidelines. METHODS: A cross sectional study conducted in September 2019, using electronic survey. The survey sent to all the Pediatric Emergency physicians practicing in Kingdom of Saudi Arabia (KSA) through emails and WhatsApp and the questionnaire based on clinical scenario written in English language. RESULTS: One hundred and three (70%) of 147 physicians working in KSA and covering pediatric emergency departments responded to the survey. Only 20% of the physicians reported full compliance to all 4 guideline components; 57% reported that they were not aware of the published guidelines. CONCLUSION: Pediatric emergency physicians reported poor compliance to the 2017 published guidelines for the treatment of children with convulsive status epilepticus in KSA.

Metabolic and genetic disorders mimicking cerebral palsy.

Cerebral palsy is a syndrome that encompasses a large group of childhood movement and posture disorders that result from a lesion occurring in the developing brain. The clinical presentation of many metabolic and genetic conditions, particularly in highly consanguineous populations, can mimic cerebral palsy particularly at early age. The aim of this review article is to identify the clinical features that should alert the physician to the possibility of disorders that resemble cerebral palsy, the clinical and neuroimaging red flags, and highlight some metabolic and genetic conditions which may present with spasticity, ataxia and dyskinesia. In the case of metabolic or genetic disorder, making a precise diagnosis is particularly important for the possibility of treatment, accurate prognosis and genetic counseling.

Impact of ultrasounds and high voltage electrical discharges on physico-chemical properties of rapeseed straw's lignin and pulps.

In this study, ultrasound (US) and high voltage electrical discharges (HVED) were combined with chemical treatments (soda or organosolv) for rapeseed straw delignification. Delignification was improved by both physical pretreatments. US increased the extractability of hemicelluloses and HVED induced a partial degradation of cellulose. Best synergies were observed for HVED-soda and US-organosolv treatments. The obtained lignin fractions were characterized with 13C NMR and 2D 1H-13C HSQC. It was observed that the physical treatments affected the syringyl/guaiacyl (S/G) ratios. The values of S/G were ≈1.19, 1.31 and 1.75 for organosolv, HVED-organosolv and US-organosolv processes, suggesting recondensation reactions. The lignin fractions obtained from HVED-organosolv treatment contained less quantity of p-coumaric acid and ferulic acid as compared to those extracted by US-organosolv. Thermogravimetric analysis (TGA) revealed a better heat resistance of physically extracted lignins as compared to the control. The enzymatic digestibility increased by 24.92% when applying HVED to mild organosolv treatment.

Neurological expression of an inherited translocation of chromosomal 1 and 7.

An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum.

The Effect of Wind on Coxiella burnetii Transmission Between Cattle Herds: a Mechanistic Approach.

There is a consensus that wind plays a key role in the transmission of Coxiella burnetii, the causative agent of Q fever, between ruminants and from ruminants to humans. However, no observational study so far has focused on the mechanisms associated with this airborne transmission. This study applied a mechanistic epidemiological approach to investigate the processes underlying the wind effect and to assess its influence on the risk for a dairy herd to become C. burnetii infected. Ninety-five dairy cattle herds located in the Finistère department (western France) were subjected to samplings of bulk tank milk and indoor dust every 4 months over a 1-year period to determine their C. burnetii status using PCR tests. A total of 27 incident herd-periods (negative-tested on both PCR tests and becoming positive-tested at least once at the subsequent sampling time) and 71 negative herd-periods were retained for analysis. Using logistic regression, we assessed the effect of (i) the cumulated number of bacteria in herds located under the main wind direction and (ii) the mean wind speed in this area, on a given herd's risk of becoming incident. Compared to herds in areas with low wind speed (≤5.5 m/s), the risk was significantly higher (OR = 3.7) in herds in areas with high wind speed (>5.5 m/s) and high bacterial load (>10), whereas it was not significantly different from unity in other situations. In agreement with our assumptions, C. burnetii transmission to a previously infection-free herd occurs only when (i) the wind transporting from infected sources and (ii) the load in the contaminated particles/aerosols generated are high enough to act jointly.

Acute psychosis in children: do not miss immune-mediated causes.

New-onset psychosis in children represents a complex presenting symptom. Psychosis can be attributable to a combination of factors and etiologies, and all possible causes must be systematically examined. There is growing evidence that a proportion of psychosis/ psychiatric manifestations in children may be immunemediated, and physicians should consider this etiology in each presentation of first-episode psychosis. Immunemediated encephalopathies/encephalitis are increasingly being recognized in children with antibodies to N-methyl-D-aspartate receptor, Leucine-rich gliomainactivated 1 or other central nervous system antigens such as Contactin-associated protein-like 2, glutamic acid decarboxylase, alpha-amino-3-hydroxy-5-methyl-4isoxazolepropionic acid or Gamma-aminobutyric acid B. In this study, we describe 3 cases of immune-mediated encephalopathy/encephalitis with prominent psychiatric symptoms at presentation, and suggest a practical diagnostic and treatment approach for children with acute psychosis of an immune-mediated cause.

[Esophageal strictures in children with epidermolysis bullosa]. / Sténoses œsophagiennes de l'épidermolyse bulleuse.

UNLABELLED: Esophageal stricture is a rare but often severe complication of recessive dystrophic epidermolysis bullosa in children. The purpose of the study was to review this digestive complication with emphasis on diagnostic modalities and therapeutic management. PATIENTS AND METHODS: This was a retrospective study of two pediatric cases of esophageal stenosis that occurred during generalized recessive dystrophic epidermolysis bullosa of the Hallopeau-Siemens type. RESULTS: The 2 patients were aged 8 years 8 months and 11 years 5 months, respectively. Dysphagia was of early onset, before the age of 10 years in both cases. Esophageal opacification led to the diagnosis of esophageal stenosis located in the upper 1/3 of the esophagus in 1 case and at the junction between the middle and the lower 1/3 of the esophagus in the other case. None of the 2 patients received medical treatment, and pneumatic dilation was the treatment method that was advocated. Esophageal endoscopy showed the stenosis and helped guide the positioning of the balloon catheter. These patients underwent 2 and 3 sessions of dilation, respectively, at intervals of 2 months and 1 year. Balloon dilation has allowed the patients to have a more comfortable life with decreased dysphagia and a substantial improvement in nutritional status. However, this improvement was transient (1 patient had symptomatic recurrence of stenosis after 3 years), which shows that monitoring of the patients and the resumption of dilatation sessions may be necessary. CONCLUSION: Esophageal strictures in dystrophic epidermolysis bullosa of the Hallopeau-Simens type are severe and difficult to support. Pneumatic dilatation is the treatment of choice for the fragile esophagus. It gives satisfactory results and can be repeated without significant risk.

Membrane sterol depletion impairs miltefosine action in wild-type and miltefosine-resistant Leishmania donovani promastigotes.

OBJECTIVES: This study focuses on the importance of sterols in the action of miltefosine (hexadecylphosphocholine, HePC) against Leishmania donovani. METHODS: Plasma membranes of L. donovani promastigotes were depleted of sterol using methyl-beta-cyclodextrin (MCD) and cholesterol oxidase (CH-OX). Sterols were quantified and HePC susceptibility was assessed using the MTT test. A biomimetic model of the outer leaflet of a Leishmania plasma membrane was used to decipher the HePC-lipid interactions. RESULTS: CH-OX, which is known to act more specifically on condensed membranes, therefore at the level of lipid rafts, gave a better extraction yield in HePC-resistant parasites, confirming the more rigid structure of their membranes than those of wild-type parasites. Sterol depletion was responsible for a 40% decrease in HePC susceptibility in both wild-type and HePC-resistant parasites. Sterol repletion of the sterol-depleted parasites restored HePC susceptibility. The biomimetic model of the outer leaflet of a Leishmania plasma membrane confirmed that condensed microdomains were able to incorporate higher quantities of HePC than fluid ones and this result was amplified when the sterol concentration was increased. CONCLUSIONS: Sterol and lipid rafts probably play a significant role as an HePC reservoir providing a constant supply to the previously described transporter. In addition, (1)H NMR experiments suggested that HePC stimulated lipid trafficking in parasites.

[Adverse events related to systemic treatment using Glucantime for cutaneous leishmaniasis: a report from Tunisia]. / Effets indésirables du traitement systémique de la leishmaniose cutanée par Glucantime: expérience Tunisienne.

Glucantime is the firstline treatment for cutaneous leishmaniasis in Tunisia. Adverse effects related to systemic administration of Glucantime are frequent. The purpose of this retrospective study was to review the files of 53 patients who were treated for cutaneous leishmaniasis using meglumine antimoniate at a dose of 60 mg/kg/day for 15 days during the period between 1998 and 2007. Adverse effects were observed in 5 men and 4 women with an average age of 40.8 years. Antimony intolerance occurred in 8 patients and stibio-intoxication occurred in 4. Glucantime was considered as the most likely cause of adverse effects in 6 patients and as the plausible cause in 3 patients. Fever was the most frequent complication of antimony intolerance followed by cough, myalgia, and cutaneous lesions. Hepatic cytolysis was the most frequent sign of stibio-intoxication. Asymptomatic elevation of amylase level to 108 UI/l was observed in one case. The most serious complication was acute toxic kidney failure on the 15th day of treatment. The incidence of adverse events to Glucantime ranges from 16% to 59%. The most severe complication is acute renal failure on the 15th day of treatment, as observed in one patient in this series. Patient status must be monitored by performing laboratory tests at the beginning and end of the treatment. Since cutaneous leishmaniasis observed in Tunisia is a self-healing dermatosis that never results in sequels, treatment with Glucantime should be discontinued in any patient who develops suspicious symptoms.

Spontaneous perforation of the extrahepatic bile duct in infancy: report of two cases and literature review.

BACKGROUND: Spontaneous perforation of the bile duct (SPBD) is a rare disease in infancy. The pathogenesis, diagnostic modalities and treatment options for this condition are reviewed and discussed. METHODS: The authors report 2 new observations of SPBD in 2 male newborns aged respectively 27 and 21 days. RESULTS: The 2 newborns presented with cholestatic jaundice. Abdominal sonography showed an extrahepatic mass. Exploratory laparotomy revealed that the perforation was located in the cystic duct in the first case and in the common bile duct (CBD) in the second. The site of perforation was repaired and both patients underwent simple external biliary drainage. The postoperative course was uneventful for both patients with follow-up ranging from 2 to 4 years. CONCLUSIONS: SPBD is a rare, but important cause of surgical jaundice in infants. The pathogenesis of SPBD is unknown and multifactorial and diagnosis is often problematic. Surgical management is always required and a conservative approach is usually recommended. The prognosis is good with early surgical management.

[Intussusception owing to pathologic lead points in children: report of 27 cases]. / Les causes inhabituelles d'invagination intestinale aiguë: à propos de 27 cas.

OBJECTIVE: Intussusception owing to pathologic lead points is a challenging condition for pediatric surgeons. The aim of this study was to review the particularities of clinical presentation, the place of morphologic investigation in depicting the presence of an organic lesion and the management of secondary intussusception. PATIENTS AND METHODS: The authors report a series of 27 patients treated from 1986 to 2004, for secondary intussusception. RESULTS: Nineteen boys and 8 girls, aged from 45 days to 11 years (mean age: 40 months) presented with secondary intussusception: Meckel's diverticulum (13 cases); lymphoma (8 cases); intestinal duplication (3 cases); heterotopic pancreas (2 cases); intestinal polyp (1 case). All patients were operated upon after failure of hydrostatic reduction. An intestinal resection with an end to end anastomosis was done for 26 patients. The biopsy of a large abdominal mass after an easy reduction of the intussusception was performed in 1 case. Chemotherapy was started at the sixth postoperative day for the 8 children having lymphoma. Two of them died during therapy. For the 25 others, the postoperative course was uneventful with a mean follow-up of 4 years. COMMENTARY: The improvement of the management and the prognosis of secondary intussusception requires an early diagnosis. Morphologic examination must not be limited to the diagnostic of intussusception but must aim at searching a lead point. The reduction of this particular form is based exclusively on surgery.

A field method using microcosms to evaluate transfer of Cd, Cu, Ni, Pb and Zn from sewage sludge amended forest soils to Helix aspersa snails.

Juvenile Helix aspersa snails exposed in field microcosms were used to assess the transfer of Cd, Cu, Ni, Pb and Zn from forest soils amended with liquid and composted sewage sludge. Zn concentrations and contents were significantly higher in snails exposed to liquid and composted sludge after 5 and 7 weeks of exposure, when compared with control. Trends were less clear for the other metals. Present results show that Zn, among the cocktail of metallic trace elements (MTE) coming from sewage sludge disposal, represents the principal concern for food chain transfer and secondary poisoning risks. The microcosm design used in this experiment was well suited for relatively long-term (about 2 months) active biomonitoring with H. aspersa snails. The snails quickly indicated the variations of MTE concentrations in their immediate environment. Therefore, the present study provides a simple but efficient field tool to evaluate MTE bioavailability and transfer.

Elevation of serum soluble E-selectin and VCAM-1 in severe asthma.

OBJECTIVE: To investigate the significance of circulating adhesion molecules associated with leucocyte-endothelial cell interactions in asthma, serum levels of soluble E (sE)-selectin, soluble P (sP)-selectin, soluble L (sL)-selectin, and soluble vascular cell adhesion molecule-1 (sVCAM-1) were measured in mild, moderate and severe asthma. METHOD: Serum levels of sE-selectin, sP-selectin, sL-selectin, and sVCAM-1 were measured in 32 women with asthma and 30 healthy donors using an enzyme-linked immunosorbent assay method. Twenty patients were suffering from severe asthma, and 12 from mild/moderate asthma. RESULTS: Serum sE-selectin and sVCAM-1 levels from patients with asthma were significantly higher than those observed in healthy donors (p < 0.01). The levels of sP-selectin were the same as those of controls. The level of sE-selectin exhibited an important increase in the severe asthmatic patients compared with mild/moderate asthma (p < 0.01). The sVCAM-1 level was increased in severe asthma when compared with healthy controls. There was no correlation between the levels of soluble selectins and the age of the patients. A significant correlation was found between sE-selectin and sVCAM-1 levels. CONCLUSION: These data indicate that circulating soluble forms of the selectins may have different kinetics during the clinical course of asthma, suggesting that they may reflect different inflammatory pathways in severe asthma. Both sVCAM-1 and sE-selectin may be useful immunological markers for monitoring disease activity in asthma.