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Y. Mizuno ◽  
Y. Norimatsu ◽  
Y. Ohno

2021 ◽  
pp. 1-6
Daniel Martín Fernández-Mayoralas ◽  
Jacobo Albert ◽  
Sara López-Martín ◽  
Mar Jiménez de la Peña ◽  
Ana Laura Fernández-Perrone ◽  

Bi-allelic mutations in the <i>TUBGCP4</i> gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference. No retinal abnormalities were observed. Brain MRI revealed the presence of enlarged sheaths of both tortuous optic nerves; both eyes had shorter axial lengths. Whole-exome sequencing in trio revealed synonymous <i>TUBGCP4</i> variants in homozygous state: c.1746G&#x3e;T; p.Leu582=. This synonymous variant has been previously described and probably leads to skipping of exon 16 of <i>TUBGCP4</i>. These results broaden the clinical spectrum of this new syndrome and suggest that <i>TUBGCP4</i> bi-allelic mutations may underlie complex neurodevelopmental disorders.

2021 ◽  
Vol 18 (4) ◽  
pp. 44-48
Halil Onder ◽  
Gokcen Celik

Focal paresis secondary to Herpes zoster (HZ) is a rare neurological complication and should be kept in mind in the differential diagnosis of acute weakness with corresponding dermatomal rashes. In this case report, we illustrate an 84-year-old male patient, who presented with focal upper extremity weakness following HZ on right C4-8 dermatome. After clinical and electrophysiological evaluations, segmental zoster paresis was diagnosed. Although antiviral medication(oral brivudine) had been administered previously, oral valacyclovir and low dosage methylprednisolone were initiated. In the following 2 months interval, a progressive and dramatic recovery in extremity weakness and neuropathic pain were achieved. The clinical course of this patient may give substantial perspectives regarding the clinical evaluation of similar cases.

2021 ◽  
Vol 18 (4) ◽  
pp. 33-38
Hugues Ghislain Atakla ◽  
Fatoumata Lounceny Barry ◽  
Mahugnon Maurel Ulrich Dénis Noudohounsi ◽  
Benjamin Bekoe Ofosu ◽  
Ummi Sulaimi Sulemana ◽  

Context and Objective: Hemorrhagic Cerebrovascular Accidents represent 10 to 15% of all strokes and are often related to the spontaneous rupture of small vessels weakened by chronic arterial hypertension or amyloid angiopathy. The aim of this work was to study the prognostic determinants of intracerebral haematomas at the neurology department of Conakry University Hospital. Patients and Method: This was a retrospective analytical study conducted on all patients who were hospitalized with intracerebral hematoma over the 24-month period. Only the records of patients in whom intracerebral hematoma was confirmed by brain imaging were included in this study. Logistic regression (uni-variate and multi-variate) identified prognostic determinants of intracerebral hematoma at p < 0.05. The data were entered using Epi Info software version then analysed using STATA / SE software version 11.2. Results: This study found 21% of cases of intracerebral hematomas during the study period, with a male predominance of 60% and a sex ratio of 1.50. The study was conducted in the presence of a male patient. Hypertension was the cause found in 89.52% of patients; followed by arteriovenous malformations in 6.67% of patients, 2.86% of cases of amyloid angiopathy and 0.95% of unknown cause. Nevertheless, we still recorded 20% of deaths during hospitalization. Conclusion: Previous quality of life and co-morbidities also modify the prognosis and should be taken into account in the prediction of disability and future quality of life of patients with intracerebral haematoma.

Nivedita Chinam ◽  
Aniket Vaidya ◽  
Manisha Khorate ◽  
Sonam Khurana

AbstractAmeloblastoma is the most common benign odontogenic tumor of epithelial origin. It exhibits a locally aggressive behavior and high recurrence rate with multitude of factors involving in its molecular pathogenesis. This article reports a case of acanthomatous ameloblastoma involving the mandible in a 60-year-old male patient with peculiar imaging characteristics. The role of computed tomography and magnetic resonance imaging in diagnosis of conventional ameloblastoma has been elaborately emphasized in the discussion. Although the final diagnosis is based on histopathological features, physicians should be aware of the role of advanced imaging for diagnosis of ameloblastoma and for better surgical management.

Cureus ◽  
2021 ◽  
Nikolaos Karakousis ◽  
Nikolaos A Kostakopoulos ◽  
Vasiliki E Georgakopoulou ◽  
Elisavet E Pyrgioti ◽  
Petros N Georgakopoulos

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Alireza Firooz ◽  
Ensieh Lotfali ◽  
Mahsa Fattahi ◽  
Maryam Fattahi ◽  
Akram Miramin Mohammadi ◽  

A 26-year-old male patient referred to our center with a history of extremely itchy crusted skin lesions in his groins for one year. Moreover, his friend, a 25-year-old male, also developed similar lesions in the groin after using the shared pool, whose condition also did not improve with similar treatment. A regular mycology test (direct and culture test) was performed, as well as molecular examination. The antifungal susceptibility assay to terbinafine, itraconazole, posaconazole, fluconazole, and voriconazole was conducted according to the Clinical and Laboratory Standards Institute M38 third ed. The sequencing study identified T. tonsurans as the causative organism in both patients. The abovementioned organism isolated from both patients displayed resistance against terbinafine and fluconazole (MIC ≥ 4 µg/ml and MIC ≥ 8 µg/ml, respectively). Moreover, the susceptibility of both subjects to posaconazole (0.313 µg/ml), voriconazole (0.25–0.0625 µg/ml), and (1 µg/ml) itraconazole increased. The present report aimed to emphasize the increase in antifungal resistance and a demand for antifungal stewardship, to control this public health threat.

2021 ◽  
Vol 9 ◽  
Leandro Francisco Pippa ◽  
Maria Paula Marques ◽  
Anna Christina Tojal da Silva ◽  
Fernando Crivelenti Vilar ◽  
Tissiana Marques de Haes ◽  

Neurocryptococcosis, a meningoencephalitis caused by Cryptococcus spp, is treated with amphotericin B (AmB) combined with fluconazole. The integrity of the brain-blood barrier and the composition of the cerebrospinal fluid (CSF) may change due to infectious and/or inflammatory diseases such as neurocryptococcosis allowing for the penetration of AmB into the central nervous system. The present study aimed to develop LC-MS/MS methods capable of quantifying AmB in CSF at any given time of the treatment in addition to plasma, plasma ultrafiltrate, with sensitivity compatible with the low concentrations of AmB reported in the CSF. The methods were successfully validated in the four matrices (25 μl, 5–1,000 ng ml−1 for plasma or urine; 100 μl, 0.625–250 ng ml−1 for plasma ultrafiltrate; 100 μl, 0.1–250 ng ml−1 for CSF) using protein precipitation. The methods were applied to investigate the pharmacokinetics of AmB following infusions of 100 mg every 24 h for 16 days administered as a lipid complex throughout the treatment of a neurocryptococcosis male patient. The methods allowed for a detailed description of the pharmacokinetic parameters in the assessed patient in the beginning (4th day) and end of the treatment with AmB (16th day), with total clearances of 7.21 and 4.25 L h−1, hepatic clearances of 7.15 and 4.22 L h−1, volumes of distribution of 302.94 and 206.89 L, and unbound fractions in plasma ranging from 2.26 to 3.25%. AmB was quantified in two CSF samples collected throughout the treatment with concentrations of 12.26 and 18.45 ng ml−1 on the 8th and 15th days of the treatment, respectively. The total concentration of AmB in plasma was 31 and 20 times higher than in CSF. The unbound concentration in plasma accounted for 77 and 44% of the respective concentrations in CSF. In conclusion, the present study described the most complete and sensitive method for AmB analysis in plasma, plasma ultrafiltrate, urine, and CSF applied to a clinical pharmacokinetic study following the administration of the drug as a lipid complex in one patient with neurocryptococcosis. The method can be applied to investigate the pharmacokinetics of AmB in CSF at any given time of the treatment.

Syahfori Widiyani ◽  
Irsalina Rahmawati ◽  
W. Yohannes Widodo ◽  
Dian Zamroni ◽  
Fajar L. Gultom ◽  

Introduction: Bullous haemorrhagic dermatosis is a rare clinical disorder which is usually related to a treatment with unfractionated heparin (UFH) or low molecular weight heparin (LMWH), characterized by multiple intra-epidermal haemorrhages distant from the site of injection. Presentation of Case: A 62-year-old male patient with coronary heart disease who received heparin treatment experienced several tense, haemorrhagic bullae located on the right arm area, close to the injection site, and followed by the formation of several hematomas on his back trunk 2 days after he had received UFH. The lesions regressed after discontinuation of heparin and supportive topical treatments. Discussion: The lesions in this patient have similar characteristic with heparin-induced skin necrosis and demonstrate thrombocytopenia probably related to heparin. There are some proposed hypotheses of pathophysiology which include hypersensitivity reaction and idiosyncratic dose-related reaction. Given the clinically course, the discontinuation of heparin treatment was essential for lesion regression in addition other supportive measures. Conclusion: Heparin-induced skin lesions may indicate the presence of life-threatening heparin-induced thrombocytopenia. An early diagnosis is crucial to enable discontinuation of heparin if required.

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