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2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Mashu Futagawa ◽  
Hideki Yamamoto ◽  
Mariko Kochi ◽  
Yusaku Urakawa ◽  
Reimi Sogawa ◽  
...  

Abstract Background RAD51D (RAD51 paralog D) is an intermediate cancer susceptibility gene for primary ovarian cancer, including fallopian tube and peritoneal carcinomas and breast cancer. Although gynecological non-epithelial tumors such as uterine sarcomas are associated with genomic instability, including BRCA impairment, there is no clear evidence of the relationship between RAD51D variants and the risk of sarcoma development. Case presentation A Japanese woman in her 50s underwent multiple surgical resections and several regimens of chemotherapy for tumors that originated in the retroperitoneum and recurred in the peritoneum over a clinical course of approximately 4 years. The peritoneal tumor was histologically diagnosed as a leiomyosarcoma and was genetically identified to show a splice variant of RAD51D c.904-2A > T [NM_002878] through tumor profiling performed as a part of cancer precision medicine. The confirmatory genetic test performed after genetic counseling revealed that the RAD51D splicing variant detected in her tumor was of germline origin. In silico analyses supported the possible pathogenicity of the detected splice variant of RAD51D with a predicted attenuation in mRNA transcription and truncated protein production due to frameshifting, which was attributed to a single-nucleotide alteration in the splicing acceptor site at the 3′-end of intron 9 of RAD51D. Considering her unfavorable clinical outcome, which showed a highly aggressive phenotype of leiomyosarcoma with altered RAD51D, this case provided novel evidence for the relationship of a RAD51D splicing variant with malignant tumor development or progression. We report the findings of this rare case with possible involvement of the germline variant of RAD51D c.904-2A > T as a potential predisposing factor for malignant tumors, including leiomyosarcoma. Conclusions We present the findings of a case of leiomyosarcoma in the peritoneum of a female patient with a novel germline splicing variant of RAD51D as potential evidence for the pathogenicity of the variant and its involvement in the risk of sarcoma etiology and/or development. To the best of our knowledge, this is the first case report describing a leiomyosarcoma carrying a germline RAD51D splicing variant and elucidating its pathogenicity on the basis of computational prediction of the impairment of normal transcription and the presumed loss of functional protein production.


2021 ◽  
Vol 99 (11) ◽  
pp. 66-71
Author(s):  
I. A. Burmistrovа ◽  
E. V. Ezhovа ◽  
Kh. B. Dаdаshevа ◽  
E. V. Vаniev ◽  
O. V. Lovаchevа ◽  
...  

The article describes a clinical case of a female patient with respiratory tuberculosis exposed to several cases of extensive drug resistance in their family. Tuberculosis progressed in this patient due to the late initiation of adequate treatment. Therefore, the total duration of chemotherapy made 5 years till cure was achieved and an endobronchial valve was used to heal persisting (for 3 years) lung destruction.


2021 ◽  
Vol 2021 (3) ◽  
Author(s):  
Shu Yu Lee ◽  
Sohil Pothiawala ◽  
Chong Meng Seet

Adenosine is frequently used for paroxysmal supraventricular tachycardia (PSVT) treatment in the emergency department (ED). Atrial and ventricular pro-arrhythmic effects of adenosine were described in the literature, but ventricular fibrillation (VF) secondary to adenosine administration was rarely reported (with an incidence of < 1%). Reported herein is the first case of a 72-year-old female patient who developed VF hemodynamic collapse after an intravenous administration of adenosine for PSVT treatment. She had no known pre-excitation or accessory pathway, nor any underlying structural heart disease or prolonged QT syndrome. Raising awareness of this potential life-threatening pro-arrhythmic effect of adenosine is important, given its frequent use for PSVT treatment in the ED.


2021 ◽  
Vol 55 (8) ◽  
Author(s):  
Muhammad Dimas Aditya Ari ◽  
Abil Kurdi ◽  
Yonatan Christian Suisan ◽  
Harry Laksono

A 19-year-old female patient came with the chief complaint that the upper anterior teeth looked small and with many spaces. The patient claimed that the tooth had never been replaced since birth. The patient wanted to improve the aesthetics of the tooth. Treatment, in this case, was made using a fixed prosthetic to aesthetically rehabilitate through prosthodontic treatment in the anterior teeth agenesis followed by attrition. It can be concluded that fixed prosthodontic treatment using a splint bridge is one treatment option that can be used in multiple anterior teeth agenesis followed by tooth wear. An appropriate material selection increases the aesthetics and functional aspects of the final treatment.


Author(s):  
Damian Wiedbrauck ◽  
Felix Wiedbrauck ◽  
Stephan Hollerbach

AbstractAcute gastric dilatation is a rare and potentially life-threatening condition that may occur in patients suffering from anorexia nervosa after ingesting large amounts of food within a short period. Frequently, this condition is considered a surgical emergency due to subsequent occurrence of complications such as gastric necrosis or perforation.Here we report a case of a young female patient (23 years) with anorexia nervosa who presented with severe abdominal pain, nausea, and inability to vomit after a period of binge eating. Abdominal computed tomography revealed an extremely dilated stomach measuring 39.0 cm × 18.0 cm in size. Initial nasal decompression therapy using gastric tubes had failed. Due to the absence of complications, it was decided to treat her solely by endoscopic means under mechanical ventilation. After undergoing multiple overtube-assisted esophagogastroduodenoscopies (EGDs), she fully recovered eventually.This case demonstrates that interventional endoscopic treatment of a patient with uncomplicated acute gastric dilatation is feasible and safe, at least under general anesthesia. Hence, this option should be considered when sole gastric tube suction fails, and there is no indication of complications such as peritonitis, sepsis, perforation, or gastric ischemia. A more invasive and aggressive surgical procedure may be avoided in selected cases, and the length of hospital stay may be shortened.


Author(s):  
Al Shaimaa Fathi Elshetry

Abstract Background The subdiaphragmatic kidney is a positional variant of the uncommon cephalad renal ectopia, whereas renal malrotation refers to the anomalous renal hilar position. Both anomalies are rare, possibly under-reported, discovered incidentally on radiological examinations since patients are often asymptomatic. Case presentation This case report presents a unique renal anatomical variation in a 71-year-old female patient. A bilateral subdiaphragmatic renal ectopia coupled with right-sided renal malrotation, discovered accidentally on abdominal ultrasound (US), and confirmed by abdominal magnetic resonance imaging (MRI). Conclusions The presented case of bilateral subdiaphragmatic kidneys associated with right-sided renal malrotation is rare and not previously described in the literature. Radiologists must be familiar with these renal anomalies that can be discovered on imaging performed for other indications. MRI can provide more anatomical data compared to US.


2021 ◽  
pp. 521-524
Author(s):  
Azzam Alkhalifah

Vitiligo is one of the disorders where we usually see Koebner lesions. Lasers target a chromophore in the skin to deliver their energy. Their effect is theoretically considered as injury and may induce Koebner lesions in vitiligo patients. Few cases were reported with the different kinds of laser, including laser hair removal (LHR). No cases have ever been reported of vitiligo lesions induced by Alexandrite LHR. Here we present a case report of a young female patient who had never had vitiligo until she received a 755-nm LHR treatment. These vitiligo lesions were completely treated with NB-UVB with no recurrence until 4 years later when she received another 755-nm LHR treatment session with a different machine, which lead to new vitiligo patches only on the areas that received the laser.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Sara Husain ◽  
Mohamed Isa ◽  
Raed Almarzooq

Here, we report a case of a 42-year-old female patient with left lobular breast cancer-gastric metastasis (initially misdiagnosed five years ago as an invasive ductal carcinoma) presenting with dyspepsia, weight loss, and persistent vomiting lasting for four weeks. Upper GI endoscopy revealed evidence of linitis plastica, and histological and immunocytochemical analyses of the biopsy confirmed gastric metastasis secondary to invasive lobular breast carcinoma.


2021 ◽  
Vol 12 ◽  
Author(s):  
Libin Deng ◽  
Jingsong Xu ◽  
Wei Chen ◽  
Shicheng Guo ◽  
Robert D. Steiner ◽  
...  

To investigate refractory hypercholesterolemia, a female patient and relatives were subjected to whole-genome sequencing. The proband was found to have compound heterozygous substitutions p. Arg446Gln and c.1118+3G&gt;T in ABCG5, one of two genes causing sitosterolemia. When tracing these variants in the full pedigree, all maternally related heterozygotes for the intronic ABCG5 variant exhibited large platelets (over 30 fl), which segregated in an autosomal dominant manner, consistent with macrothrombocytopenia, or large platelet syndrome which may be associated with a bleeding tendency. In vitro cell-line and in vivo rat model experiments supported a pathogenic role for the variant and the macrothrombocytopenia was recapitulated in heterozygous rats and human cell lines exhibiting that single variant. Ezetimibe treatment successfully ameliorated all the symptoms of the proband with sitosterolemia and resolved the macrothrombocytopenia of the treated heterozygote relatives. Subsequently, in follow up these observations, platelet size, and size distribution were measured in 1,180 individuals; 30 were found to be clinically abnormal, three of which carried a single known pathogenic ABCG5 variant (p.Arg446Ter) and two individuals carried novel ABCG5 variants of uncertain significance. In this study, we discovered that identification of large platelets and therefore a possible macrothrombocytopenia diagnosis could easily be inadvertently missed in clinical practice due to variable instrument settings. These findings suggest that ABCG5 heterozygosity may cause macrothrombocytopenia, that Ezetimibe treatment may resolve macrothrombocytopenia in such individuals, and that increased attention to platelet size on complete blood counts can aid in the identification of candidates for ABCG5 genetic testing who might benefit from Ezetimibe treatment.


Author(s):  
Bárbara Cárdenas Del Castillo ◽  
Jose Castillo Bejarano ◽  
Oscar DeLaGarza-Pineda ◽  
José Arenas Ruiz ◽  
Hiram Villanueva Lozano ◽  
...  

Chaetomium sp. is a mold, member of the phylum Ascomycota. Clinical disease in humans is rare, particularly in children, for which only five cases have been reported. We report a 7-months-old female patient with a diagnosis of visceral heterotaxy syndrome who was admitted to a private center in Mexico. After two episodes of focal myoclonic seizure, a brain magnetic resonance imaging (MRI) revealed a right porencephalic cyst and a right frontal abscess with ventriculitis. Seventy-two hours after temporal abscesses drainage procedure, the culture showed a rapidly growing pale white fungal colony. Sequencing of ITS and D1/D2 led to the identification of Chaetomium strumarium. Although Chaetomium sp. is a rare fungal infection in humans, clinicians should consider it as a plausible etiologic agent that can form brain abscess.


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