Mutations in
SQSTM1
encoding the sequestosome 1/p62 protein have recently been identified in familial and sporadic cases of amyotrophic lateral sclerosis (ALS). p62 is a component of the ubiquitin ...inclusions detected in degenerating neurons in ALS patients. We sequenced
SQSTM1
in 90 French patients with familial ALS (FALS) and 74 autopsied ALS cases with sporadic ALS (SALS). We identified, at the heterozygote state, one missense c.1175C>T, p.Pro392Leu (exon 8) in one of our FALS and one substitution in intron 7 (the c.1165+1G>A, previously called IVS7+1 G-A, A390X) affecting the exon 7 splicing site in one SALS. These mutations that are located in the ubiquitin-associated domain (UBA domain) of the p62 protein have already been described in Paget’s disease and ALS patients carrying these mutations had both concomitant Paget’s disease. However, we also identified two novel missense mutations in two SALS: the c.259A>G, p.Met87Val in exon 2 and the c.304A>G, p.Lys102Glu in exon 3. These mutations that were not detected in 360 control subjects are possibly pathogenic. Neuropathology analysis of three patients carrying
SQSTM1
variants revealed the presence of large round p62 inclusions in motor neurons, and immunoblot analysis showed an increased p62 and TDP-43 protein levels in the spinal cord. Our results confirm that
SQSTM1
gene mutations could be the cause or genetic susceptibility factor of ALS in some patients.
IntroductionDécrire les aspects épidémio-cliniques et échographiques des môles hydatiformes (MH) à Abidjan.Méthodesétude transversale de 6 ans (janvier 2011 à décembre 2016) réalisée au CHU de ...Yopougon au Service de Radiologie. Elle a consisté en la description du profil épidémio-clinique et échographique des patientes porteuses de MH. Les examens échographiques ont été réalisés par voie mixte (endovaginale et sus pubienne) en modes B et Doppler Couleur par des radiologues seniors. Une étude anatomo-pathologique du contenu utérin a été effectuée.RésultatsVingt-cinq cas de MH ont été diagnostiquées sur 12,190 échographies obstétricales réalisées soit 0,2% d'incidence radiologique. L’âge moyen des patientes était de 33,4 ans avec des extrêmes de 22 et 50 ans. Il n'y avait pas de classe d'âge dominante. La notion de masse abdominale 36% et de métrorragies 28% étaient les signes cliniques prédominants qui accompagnaient l'aménorrhée (100%). Sur le plan échographique, l'utérus était hypertrophique dans 100% des cas, homogène dans 96% et myomateux dans 4% des cas. La MH avait une épaisseur moyenne de 42,7mm. Son aspect était décrit comme vésiculaire dans 68%, en nid d'abeille dans 16%, multikystique dans 12% et en tempête de neige dans 4%. Les MH étaient classées partielles dans 4% des cas, complètes dans 92% des cas et invasives dans 4% des cas. Les ovaires étaient hypertrophiques dans 44% des cas avec une notion de macrofollicules dans 32% et des kystes dans 8% des cas. Le diagnostic échographique de MH a été confirmé à l'anatomopathologie dans 100% des cas.ConclusionLes MH demeurent rares à Abidjan et sont dominées par la forme complète. La notion de survenue à des âges extrêmes n'a pas été retrouvée.
Introduction:
The frequency of breast cancer in young women, corresponding to women under 40 years of age; varies from 5% to 7% in developed countries. The objective of this study was to contribute ...to the improvement of the management of breast cancer in young women in Togo, by establishing the molecular classification of these cancers.
Methodology:
This was a retrospective descriptive and analytical study from January 2010 to December 2020.
Results:
About 35 cases of breast cancer were identified in women under 40 years of age. The average age was 35.4 ± 3.5 years. The right breast was affected in 18 cases (51.43%). Histologically, 30 cases (85.72%) were invasive carcinoma of no special type (NST), 2 cases (5.71%) were invasive lobular carcinoma and micro-papillary carcinoma respectively, and 1 case (2.86%) was tubular carcinoma. There were 6 cases (17.1%) of grade I, 25 cases (71.4%) of grade II, and 4 cases (11.4%) of grade III. Molecularly, there were 20 cases (57.1%) of triple-negative subtype, 6 cases (17.1%) of Luminal B subtype, 05 cases (14.3%) of HER2-enriched subtype and 4 cases (11.4%) of Luminal A subtype.
Conclusion:
Breast cancers of young Togolese women express very weakly hormone receptors, with a predominance of a triple negative subtype.
Native to Mexico, Persea americana Mill. (avocado) is a fruit tree whose different parts (leaf, bark, roots, and stone) are used in traditional medicine especially against diabetes mellitus. The aim ...of this study was to investigate the beneficial effects of 28-day treatment with aqueous, ethanolic, and methanolic leaf extracts on glucose homeostasis in type 2 diabetic mellitus using Wistar rats. Type 2 diabetes was induced with nicotinamide (120 mg/kg, i.p.) and streptozotocin (65 mg/kg, i.p.). After 28 days of treatment, histopathological examination of the pancreas, kidneys, liver, and muscle (tibialis anterior) were realized. Biochemical markers were determined and an intestinal absorption test of D-glucose was performed. All extracts (100 mg/kg/day, p.o.) significantly (p<0.001) reduced blood glucose level at the 28th day of treatment with a more pronounced effect for methanolic extract. The treatments were well tolerated and induced a restoration of T-CHOL and HDL-C levels compared to the control group. Methanolic extract reduced the AIP (atherogenic index of plasma) by 45%. Histopathological analyzes of the pancreas showed regeneration of islets of Langerhans. Methanolic extract was the most effective in preventing intestinal glucose uptake up to 60.90% in relation to metformin. These results justify the use of this plant in traditional medicine against type 2 diabetes. However, other complementary studies should be done to identify the molecules responsible for this activity and their signaling voice.
Background:
Primary carcinoid tumors are rare and constitute 0.23% of all testicular tumors. We report a case of primary carcinoid tumor of testicular localization, with a review of the literature.
...Case presentation:
A 29-year-old man, without specific ascendants, consulted the urology department for progressive scrotal swelling of 6 months, associated with pain. After surgery, histology showed diffuse tumor proliferation composed of small round monotone cells with hyperchromatic nuclei evoking undifferentiated carcinoma. Immunohistochemistry showed that tumor cells were positive for chromogranin A and negative for placental alkaline phosphatase and α-fetoprotein.
Conclusion:
Primary neuroendocrine carcinoma of the testis is a very rare malignant tumor. Immunohistochemistry contributes to its diagnosis in relation to other metastatic neuroendocrine carcinomas, carcinoid tumor teratomas, seminoma, and Sertoli cells.
TP53
is a pivotal gene frequently mutated in diffuse gliomas and particularly in astrocytic tumors. The majority of studies dedicated to
TP53
in gliomas were focused on mutational hotspots located in ...exons 5–8. Recent studies have suggested that
TP53
is also mutated outside the classic mutational hotspots reported in gliomas. Therefore, we have sequenced all
TP53
coding exons in a retrospective series of 61 low grade gliomas (LGG) using high throughput sequencing technology. In addition,
TP53
mutational status was correlated with: (i) p53 expression, (ii) tumor type, (iii) chromosome arms 1p/19q status and (iv) clinical features of patients. The cohort included 32 oligodendrogliomas (O), 21 oligoastrocytomas (M) and 8 astrocytomas (A).
TP53
mutation was detected in 52.4 % (32/61) of tumors (34 % of O, 71.4 % of M and 75 % of A). All mutations (38 mutations in 32 samples) were detected in exons 4, 5, 6, 7, 8 and 10. Missense and non-missense mutations, including seven novel mutations, were detected in 42.6 and 9.8 % of tumors respectively.
TP53
mutations were almost mutually exclusive with 1p/19q co-deletion and were associated with: (i) astrocytic phenotype, (ii) younger age, (iii) p53 expression. Using a threshold of 10 % p53-positive tumor cells, p53 expression is an interesting surrogate marker for missense
TP53
mutations (Se = 92 %; Sp = 79.4 %) but not for non-missense mutation (18.4 % of mutations).
TP53
and p53 statuses were not prognostic in LGG. In conclusion, we have identified novel
TP53
mutations in LGG.
TP53
mutations outside exons 4–8 are rare. Although it remains imperfect, p53 expression with a threshold of 10 % is a good surrogate marker for missense
TP53
mutations and appears helpful in the setting of LGG phenotype diagnosis.
Our study describes the epidemiology and aetiology of cervical lymphadenopathy in children diagnosed between 2003 and 2017 at the pathology laboratory of Lomé, Togo. A total of 221 cases were ...collected. The average age of diagnosis of the study population was 9.8 ± 0.3 years and consisted of 118 (53.4%) boys. HIV was confirmed by indirect ELISA test in 69 (31.2%) cases. The cohort consisted of infections (n = 128, 57.9%), tumours (n = 85, 38.5%) and others (n = 8, 1.6%). The main infectious aetiology was tuberculosis (n = 84). Tumour aetiology consisted of 79 primary malignancies and three metastatic cases. Primary tumours consisted predominantly of lymphoma (n = 74), with Burkitt's lymphoma (n = 44) being the most common. Tuberculosis on a background of HIV infection remains the dominant cause of cervical lymphadenopathy in the tropical region of Togo.
This study aimed to estimate the prevalence of poultry aspergillosis and evaluate the accuracy of histopathology (test under evaluation) and mycological culture (an imperfect reference test). Farms ...raising layer and breeder or broiler birds, with suspected aspergillosis cases, clinical or subclinical, were eligible and visited for sampling. After necropsy, histopathology and mycological culture examinations were conducted by two evaluators. A Bayesian latent class model was used to estimate the accuracy of histopathology when compared to the imperfect reference test, mycological culture. A total of 142 chicken farms, 96 laying and breeding hen farms, and 46 broiler farms were used for the study. True aspergillosis median prevalence was estimated at 63.7% (95% credibility intervals, CrI: 53.8%, 73.0%) in layers and breeders and at 65.2% (95% CrI: 50.2%, 78.3%) in the broiler farms' population. The median diagnostic sensitivity of histopathology and culture were estimated at, respectively, 98.8% (95% CrI: 94.6%, 100.0%) and 90.4% (95% CrI: 83.6%, 95.3%). Tests' diagnostic specificity was estimated at, respectively, 97.3% (95% CrI: 87.7%, 99.9%) and 95.7% (95% CrI: 91.8%, 98.2%). Both tests had very high and comparable positive predictive values, but, in a population where disease prevalence was 25%, histopathology had a higher negative predictive value than culture.
Histoplasmosis is a fungal disease caused by
var.
(Hcc) and
var.
(Hcd)
Central nervous system (CNS) involvement is rare. So far, the few cases reported having Histoplasmosis associated brain ...abscesses were caused by
var.
. Herein, we report a unique case of brain abscess caused by
var.
occurring in a 42-year-old immunocompromised woman with HIV. Initially, she presented with hypothermia, vomiting, frontal headache, evolving over one month. She then progressed to have a generalized seizure. Brain MRI showed multifocal brain abscesses and a frontal osteitis. The frontal osteitis was biopsied and confirmed the diagnosis of
var.
. She was successfully treated with liposomal amphotericin B (150 mg daily) for the first four weeks and itraconazole (200mg twice daily) for six months.
The purpose of our study was to describe the epidemioclinical and ultrasonographic features of hydatidiform moles (HM) in Abidjan.
We conducted a cross-sectional study in the Department of Radiology, ...University Teaching Hospital of Yopougon over a 6-year period (January 2011-December 2016). In this study we describe the epidemioclinical and ultrasonographic profile of patients with HM. Ultrasonographic exams were performed using a mixed-methods approach (intravaginal and subpubic) based on B-mode and Color Doppler by senior radiologists. Anatomopathological examination of uterine content was performed.
Out of 12190 obstetric ultrasound performed, twenty-five cases of HM were diagnosed reflecting a radiological referral rate of 0.2%. The average age of patients was 33.4 years, ranging from 22 to 50 years. There was no dominant age class. The main clinical signs associated with amenorrhea (100%) included abdominal mass 36% and vaginal bleeding 28%. Ultrasound showed hypertrophic uterus in 100% of cases, homogeneous uterus in 96% of cases and myomatous uterus in 4% of cases. MH had an average thickness of 42.7 mm with vesicular appearance in 68% of cases, "honeycomb" appearance in 16%, multicystic appearance in 12% and snowstorm appearance in 4%. MHs were classified as partial in 4% of cases, complete in 92% of cases and invasive in 4% of cases. Hypertrophic ovaries were found in 44% of cases with macrofollicles in 32% of cases and cysts in 8% of cases. Ultrasonographic diagnosis of HM was confirmed by anatomopathological examination in 100% of cases.
HMs are rare in Abidjan and are dominated by the complete hydatidiform mole. Its occurrence at the extreme ages wasn't found.
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