RACGAP1 variants in a sporadic case of CDA III implicates the dysfunction of centralspindlin as the basis of the disease

Introduction: Fournier’s gangrene is a rare but fast deteriorating and serious condition with high mortality. In most cases, it is characterized as necrotizing fasciitis of the perineum and external genitals. Amyand’s hernia is a rare condition where the appendix is contained in the sac of an inguinal hernia. Inflammatory alterations in the appendix account only for 0.1 % of the cases when Amyand’s hernia is verified. Fournier’s gangrene as a complication of a late diagnosis of appendicitis located in the inguinal canal is described in the literature as rare case reports. Case report: The case report of a 70-year-old patient with Fournier’s gangrene resulting from gangrenous appendicitis of Amyand’s hernia. Conclusion: Fournier’s gangrene as a complication of Amyand’s hernia is a rare condition. Only sporadic case reports thereof can be found in the literature. Because of the rarity of this pathology and the lack of randomized controlled studies, it is difficult to determine the optimal treatment according to the principles of evidence-based medicine. An appropriate approach for this condition appears to be the combination of guidelines developed in Amyand’s therapy according to Losanoff and Basson, along with the recommended “gold standard” therapy for Fournier’s gangrene. This means early and highly radical surgical debridement, adequate antibiotic therapy and intensive care.

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A Sporadic Case of Diarrhoea due to EnterotoxigenicClostridium perfringens

Microbial Ecology in Health and Disease ◽

10.3402/mehd.v1i1.7396 ◽

1988 ◽

Vol 1 (1) ◽

Author(s):

I. Luzzi ◽

A. Caprioli ◽

R. Bisicchia ◽

R. Ciammarughi ◽

P. Mastrantonio

Keyword(s):

Sporadic Case

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Intrabiliary and abdominal rupture of hepatic hydatid cyst leading to biliary obstruction, cholangitis, pancreatitis, peritonitis and septicemia: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-02822-5 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Manouchehr Aghajanzadeh ◽

Mohammad Taghi Ashoobi ◽

Hossein Hemmati ◽

Pirooz Samidoust ◽

Mohammad Sadegh Esmaeili Delshad ◽

...

Keyword(s):

Abdominal Pain ◽

Hydatid Cyst ◽

Hydatid Disease ◽

Biliary Obstruction ◽

Abdominal Ultrasound ◽

Sporadic Case ◽

Gallbladder Wall ◽

Liver Cyst ◽

Biliary Duct ◽

Wall Thickening

Abstract Background Hydatid cysts are fluid-filled sacs containing immature forms of parastic tapeworms of the genus Echinococcus. The most prevalent and serious complication of hydatid disease is intrabiliary rupture, also known as cystobiliary fistulae. In this study, a sporadic case of biliary obstruction, cholangitis, and septicemia is described secondary to hydatid cyst rupture into the common bile duct and intraperitoneal cavity. Case presentation A 21-year-old Iranian man was admitted to the emergency ward with 5 days of serious sickness and a history of right upper quadrant abdominal pain, fatigue, fever, icterus, vomiting, and no appetite. In the physical examination, abdominal tenderness was detected in all four quadrants and in the scleral icterus. Abdominal ultrasound revealed intrahepatic and extrahepatic biliary duct dilation. Gallbladder wall thickening was normal but was very dilated, and large unilocular intact hepatic cysts were detected in segment IV and another one segment II which had detached laminated membranes and was a ruptured or complicated liver cyst. Conclusion Intrabiliary perforation of the liver hydatid cyst is an infrequent event but has severe consequences. Therefore, when patients complain of abdominal pain, fever, peritonitis, decreased appetite, and jaundice, a differential diagnosis of hydatid disease needs to be taken into consideration. Early diagnosis of complications and aggressive treatments, such as endoscopic retrograde cholangiopancreatography and surgery, are vital.

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Dementia with Lewy bodies—associated ß-synuclein mutations V70M and P123H cause mutation-specific neuropathological lesions

Human Molecular Genetics ◽

10.1093/hmg/ddab036 ◽

2021 ◽

Author(s):

Maryna Psol ◽

Sofia Guerin Darvas ◽

Kristian Leite ◽

Sameehan U Mahajani ◽

Mathias Bähr ◽

...

Keyword(s):

Neuronal Network ◽

Dementia With Lewy Bodies ◽

Lewy Bodies ◽

Sporadic Case ◽

Network Activity ◽

Proteinase K ◽

Neuronal Network Activity ◽

Distinct Disease

Abstract ß-Synuclein (ß-Syn) has long been considered to be an attenuator for the neuropathological effects caused by the Parkinson’s disease-related α-Synuclein (α-Syn) protein. However, recent studies demonstrated that overabundant ß-Syn can form aggregates and induce neurodegeneration in CNS neurons in vitro and in vivo, albeit at a slower pace as compared to α-Syn. Here we demonstrate that ß-Syn mutants V70M, detected in a sporadic case of Dementia with Lewy Bodies (DLB), and P123H, detected in a familial case of DLB, robustly aggravate the neurotoxic potential of ß-Syn. Intriguingly, the two mutations trigger mutually exclusive pathways. ß-Syn V70M enhances morphological mitochondrial deterioration and degeneration of dopaminergic and non-dopaminergic neurons, but has no influence on neuronal network activity. Conversely, ß-Syn P123H silences neuronal network activity, but does not aggravate neurodegeneration. ß-Syn WT, V70M and P123H formed proteinase K (PK) resistant intracellular fibrils within neurons, albeit with less stable C-termini as compared to α-Syn. Under cell free conditions, ß-Syn V70M demonstrated a much slower pace of fibril formation as compared to WT ß-Syn, and P123H fibrils present with a unique phenotype characterized by large numbers of short, truncated fibrils. Thus, it is possible that V70M and P123H cause structural alterations in ß-Syn, that are linked to their distinct neuropathological profiles. The extent of the lesions caused by these neuropathological profiles is almost identical to that of overabundant α-Syn, and thus likely to be directly involved into etiology of DLB. Over all, this study provides insights into distinct disease mechanisms caused by mutations of ß-Syn.

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Facial cleft? The first case of manitoba‐oculo‐tricho‐anal syndrome with novel mutations in China: a case report

BMC Pediatrics ◽

10.1186/s12887-021-02506-5 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Shuchen Gu ◽

Yimin Khoong ◽

Xin Huang ◽

Tao Zan

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Clinical Manifestations ◽

Sporadic Case ◽

Facial Cleft ◽

Ocular Manifestations ◽

First Case ◽

Whole Exome ◽

Chinese Girl ◽

Low Prevalence

Abstract Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. Case presentation A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. Conclusions We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.

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BIOM-10. PREVALENCE OF NF1 MISSENSE MUTATIONS AND CANDIDATE MODIFIER GENES IN SPINAL NEUROFIBROMATOSIS PATIENTS

Neuro-Oncology ◽

10.1093/neuonc/noaa215.010 ◽

2020 ◽

Vol 22 (Supplement_2) ◽

pp. ii3-ii3

Author(s):

Paola Riva ◽

Donata Bianchessi ◽

Eleonora Mangano ◽

Claudia Cesaretti ◽

Paola Bettinaglio ◽

...

Keyword(s):

Rare Variants ◽

Sporadic Case ◽

Modifier Genes ◽

Lower Percentage ◽

Missense Mutations ◽

Cutaneous Manifestations ◽

Classical Form ◽

Ras Pathway ◽

Pathogenic Variants ◽

Patients At Risk

Abstract INTRODUCTION Spinal Neurofibromatosis (SNF), a distinct clinical entity of NF1, characterized by bilateral neurofibromas involving all spinal roots and a few, if any, cutaneous manifestations, entails greater morbidity than the classical form of disease. Nevertheless, there are no reliable patterns to sort out patients at risk for developing SNF. MATERIALS AND METHODS We investigated 19 NF1 families with at least one SNF member, 37 sporadic SNF patient and 100 NF1 patients with classical form of disease. We applied Targeted NGS using a panel consisting of 139 genes encoding RAS pathway effectors, neurofibromin interactors and genes mapping at 17q11.2 region. RESULTS In SNF patients we found a higher percentage of missense (21% versus 8%, p=0 0.016, OR 3.13 (95% CI 01.1 -8.2) and a lower percentage of nonsense NF1 mutations (12.5% versus 28%,, p= 0.026, OR 0.36 (95% CI 0.14–0.9) than in classical NF1 cases. Furthermore, we evaluated rare variants with damaging potential predictors in genes of the RAS pathway and in neurofibromin interactors. In more than one sporadic case possible pathogenic variants were found in LIMK2 (neurofibromin interactor), RASAL1, RASAL3, SOS1, A2ML1, MAP3K1 (RAS pathway effectors), while in more than one SNF family were detected RASAL1, RASAL3, MAP3K1 genes variations. CONCLUSIONS Our results confirm the correlation between NF1 genotype and SNF phenotype as previously reported (Ruggieri, 2015), suggesting that neurofibromin gain-of-functions mutations are associated to SNF. In some patients, the co-occurrence of potential pathogenic variants in NF1 related genes with severe phenotypes was detected supporting their role as modifier genes and promising therapeutic targets.

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A SPORADIC CASE OF POLIOENCEPHALITIS

BMJ ◽

10.1136/bmj.2.3001.8 ◽

1918 ◽

Vol 2 (3001) ◽

pp. 8-9

Author(s):

J. N. Marshall

Keyword(s):

Sporadic Case

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