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1.
Indian J Lepr ; 2023 Jun; 95: 139-146
Article | IMSEAR | ID: sea-222632

ABSTRACT

Leprosy is a chronic granulomatous disease caused by Mycobacterium leprae. Histoid leprosy is considered an uncommon multibacillary form of leprosy characterized by presence of histoid lepromas which present as erythematous round or oval shaped glistening nodules. Most commonly this form of leprosy is seen in patients on irregular therapy with MDT. In this series we report a total of three cases with their clinical, histopathological and dermoscopic findings.

2.
Article | IMSEAR | ID: sea-218787

ABSTRACT

INTRODUCTION: Ovarian fibroma is a solid tumor that belongs to sex-cord stromal cell tumor of ovary commonest benign tumor of ovarian stroma. A 43-year-old female admitted in obstetric and gynecologyCASE REPORT: department with complain of abdominal pain for 2 months and heavy menses. Ovarian fibroma areDISCUSSION: common benign ovarian tumor accounts for approximately 1-4% of ovarian tumor usually unilateral but bilateral ovarian fibroma is rare entity. Large ovarian fibroma can be associated with ascites and right sided pleural effusion (Meigs syndrome)

3.
Journal of the Philippine Medical Association ; : 90-96, 2023.
Article in English | WPRIM | ID: wpr-1006371

ABSTRACT

@#Spindle Cell Carcinoma of the Ovary is arate form of cancer with controversial histogenesis. It shares the histologic, cytologic, and molecular properties of both epithelial and mesenchymal differentiation of ovarian neoplasms, which makes diagnosis very challenging among pathologists. Endometrioid cystadenoma is a benign ovarian neoplasms classified under epithelial ovarian tumors.Malignant transformation of benign ovarian neoplasms is known as a rare complication, occurring in approximately 0.9% of patients with ovarian endometriosis. Clear cell adenocarcinoma is the most common endometriosis-associated ovarian cancer followed by endometrioid cancer. This is the case of a 56-year old post-menopausal patient initially presenting with increasingabdominal girth. Whole abdominal ultrasound revealed a large pelvo-abdominal mass. Transvaginal and transabdominal ultrasound findings of bilateral ovarian new growth with benign sonologic features. The patient underwent bilateral salpingo-oophorectomy. Histopathologic findings of the specimen submitted revealed high-grade spindle cell carcinoma arising in an endometrioid cystadenoma of the right ovary, and endometrioid cystadenofibroma with focal epithelial proliferation.

4.
Chinese Journal of Dermatology ; (12): 463-467, 2023.
Article in Chinese | WPRIM | ID: wpr-994491

ABSTRACT

Clinical and histological features of Spitz nevi, atypical Spitz tumors and spitzoid melanoma overlap each other, making their identification challenging. Combined with clinical and histological features of spitzoid melanocytic tumors, this review summarizes research progress in their immunohistochemical features and application of fluorescence in situ hybridization in their identification.

5.
Chinese Journal of Urology ; (12): 492-496, 2023.
Article in Chinese | WPRIM | ID: wpr-994068

ABSTRACT

Objective:To explore the clinicopathological features and prognosis of renal mucinous tubular spindle cell carcinoma (MTSCC).Methods:The clinical data of 16 patients with MTSCC admitted to the First Affiliated Hospital of Zhengzhou University from July 2013 to July 2022 were retrospectively analyzed. There were six male cases and ten female cases. The mean age was (56.4±11.4) years old. Among them, 10 cases were asymptomatic, two complained of hematuria, three complained of lumbar pain, and one complained of lower limb pain. Twelve cases underwent preoperative enhanced CT examination, 6 cases of ultrasound examination, 3 cases of MRI examination, and 1 case of bone scan. Imaging manifestations showed that the masses were round or round-like with clear borders. Two cases combined with hemorrhage and three cases combined with calcification. Five cases showed exophytic growth, 10 cases partially exophytic, and 1 case completely endophytic. The maximum diameter of the tumor was (65.7±27.4) mm. The tumors were located in the left kidney in 11 cases and in the right kidney in 5 cases. The tumors were mildly delayed-enhancing under enhanced CT, long/short T1 signal mixed with long/short T2 signal under MRI, and diffusion-limited high signal under DWI. The tumors were hypoechoic masses without obvious blood flow signals under ultrasound. Twelve cases were diagnosed as renal occupying neoplasms, 2 cases were suggested as lack of blood supply renal tumor, and one was considered renal tumor rupture and bleeding. In one case, a bone scan suggested metastasis to the thoracic spine and pelvis. The metastatic renal tumor was diagnosed, and a renal puncture was performed to clarify the pathology. Eleven patients underwent laparoscopic radical nephrectomy, and 4 patients underwent partial nephrectomy. One case was metastasized without surgery and treated with apatinib mesylate and zoledronic acid.Results:The postoperative pathological specimens showed grayish, grayish-yellow, or grayish-red masses with a soft or medium texture. No perinephric, ureteral, or adrenal invasion was seen in all tumors. Microscopically, the tumor cells were round and ovoid. The tumor cells were arranged in tubular and striated shapes, and mucus pools were locally visible. No sarcomatous component was seen in all tumors. There were 9 patients with pT 1N 0M 0, 6 patients with pT 2N 0M 0, and 1 patient with pT 1N 0M 1. After operation, 2 patients with pT 2N 0M 0, who underwent laparoscopic radical nephrectomy were treated with pazopanib and sunitinib, respectively. All patients were followed up for a median of 50.7(25.8, 75.0)months, 15 patients were free of recurrent metastases, and 1 patient with pre-puncture metastasis died due to tumor progression of multiple pulmonary and bone metastases, with a survival of 16.9 months. Conclusions:Renal MTSCC is rare, mostly found on physical examination, with female patients predominantly, and imaging shows a lack of blood supply tumor. Surgery is the primary treatment method. Partial nephrectomy or radical nephrectomy could be chosen according to the tumor stage, kidney function, and patient's underlying condition, and patients have a good prognosis.

6.
Chinese Journal of Urology ; (12): 140-141, 2023.
Article in Chinese | WPRIM | ID: wpr-993990

ABSTRACT

In November 2019, we received and treated a patient with MTSCC of the left kidney. The tumor was located at the upper pole of the left kidney, with a size of 23.3 cm×18.0 cm×21.8 cm. She underwent transperitoneal radical nephrectomy. There was no local recurrence or distant metastasis during the follow-up of 3 years and 2 months. MTSCC of the kidney is a rare subtype of renal carcinoma, with slower disease progression, a clear and smooth rim, and fewer invasion or metastasis. Its final diagnosis should depend on pathology examination. Surgical treatment is the only effective intervention for this disease at present.

7.
Chinese Journal of Lung Cancer ; (12): 310-318, 2023.
Article in Chinese | WPRIM | ID: wpr-982161

ABSTRACT

Spindle assembly checkpoint (SAC) is a protective mechanism for cells to undergo accurate mitosis. SAC prevented chromosome segregation when kinetochores were not, or incorrectly attached to microtubules in the anaphase of mitosis, thus avoiding aneuploid chromosomes in daughter cells. Aneuploidy and altered expression of SAC component proteins are common in different cancers, including lung cancer. Therefore, SAC is a potential new target for lung cancer therapy. Five small molecule inhibitors of monopolar spindle 1 (MPS1), an upstream component protein of SAC, have entered clinical trials. This article introduces the biological functions of SAC, summarizes the abnormal expression of SAC component proteins in various cancers and the research progress of MPS1 inhibitors, and expects to provide a reference for the future development of lung cancer therapeutic strategies targeting SAC components.
.


Subject(s)
Humans , Cell Cycle Proteins/metabolism , Spindle Apparatus/metabolism , Protein Serine-Threonine Kinases/metabolism , M Phase Cell Cycle Checkpoints/genetics , Lung Neoplasms/metabolism
8.
Article | IMSEAR | ID: sea-219000

ABSTRACT

Introduction: Hyperpigmentation is one of the most common reac?on to inflammatory, benign and malignant lesions of the skin. These disorders comprise heterogeneous group of diseases of epidermal and dermal hyperpigmenta?on divided into various types according to e?ology and pathology. Correct diagnosis of these hyperpigmented lesions is linked to histopathologic examina?on of skin biopsies with clinical correla?on. Aim: To study the spectrum of hyperpigmented skin lesions with reference to age and sex distribu?on. Materials and Methods: This prospec?ve cohort study was conducted at Department of Pathology, at Alluri Sitaramaraju Academy of Medical Sciences, Eluru, Andhra Pradesh, India, which included 80 pa?ents who were clinically diagnosed with hyperpigmented skin lesions in all age groups from July 2014 to August 2016. Frequency and percentage sta?s?cs was used to present the results. Results: Out of 80 cases, 34 cases of inflammatory lesions, 23 cases of benign lesions and 23 cases of malignant lesions were reported. Among the post inflammatory lesions the majority were classical Lichen planus. Conclusion: Most common lesion was lichen planus and its variants with highest incidence in females and age group greater than 60 years. Histopathological diagnosis with clinical correla?on aids in effec?ve management of the pa?ents.

9.
Indian J Pathol Microbiol ; 2022 Sept; 65(3): 695-698
Article | IMSEAR | ID: sea-223327

ABSTRACT

We report a case of a 49-year-old male patient suffering from an intraspinal tumor in the lumbar vertebra. The neoplasm was composed of mono-morphic spindle cells, arrayed in a patternless pattern in a background of prominent myxoid hyaline stroma with perivascular collagen rings in hyper-cellular regions. Instead, aggregated collagen fibers arranged into nodules and apparent calcium deposition were found in hypo-cellular regions. The tumor cells showed immunopositivity with S100 and CD34, whereas lacked SOX10 expression, which were reminiscent of a group of S100 and CD34 co-expression soft tissue spindle cell lesions having recurrent fusions including RAF1, BRAF, NTRK1/2/3, and RET genes. Interestingly, a novel anaplastic lymphoma kinase (ALK)- echinoderm microtubule-associated protein-like 4 (EML4) gene fusion was revealed. To our best knowledge, it was the first time to identify such gene fusion in the Orientals among this mentioned group, and it expands the molecular genetic spectrum of this specific group. The clinical relevance of this novel fusion requires further investigations.

10.
Article | IMSEAR | ID: sea-220391

ABSTRACT

Neurofibromas of the penis occur uncommonly and their solitary occurrence is even rarer. We report a case of a ten year old child presenting with a solitary neurofibroma located on penis. A provisional clinical diagnosis of penile retention cyst was made and histopathological examination releaved a benign spindle cell lesion and few close differential diagnosis were made, which on application of immunohistochemistry was diagnosed as neurofibroma of penis. Surgical excision of the lesion was done and there was no recurrence after a year of follow up.

11.
Ann Card Anaesth ; 2022 Jun; 25(2): 220-224
Article | IMSEAR | ID: sea-219215

ABSTRACT

Spindle cell sarcoma of heart are the least reported primary cardiac tumours. We present a case of a 60-year-old man reported to us following successful resuscitation after cardiac arrest. This patient presented with symptoms of dyspnoea on exertion. The echocardiography showed features of cardiac tamponade. CT scan chest+ Abdomen + Pelvis confirmed echocardiography findings, and showed significant pericardial effusion with early cardiac tamponade. Patient continued to suffer dyspnoea even after pericardiocentesis and was unstable in the intensive care unit, hence he was shifted to operating room for re-exploration. The mass was excised in a piecemeal without instituting cardiopulmonary bypass. The total weight of the mass was approximately 500gms. The macroscopic examination of the specimen revealed a cystic mass with solid grey brown tissue. Following surgical debulking, chest X -ray in Intensive Care Unit showed improvement. The patient visited the outpatient clinic after 15 days of surgery. 2-D echocardiography revealed minimal pericardial effusion and patient was comfortable.

12.
Int. j. morphol ; 40(4): 1100-1107, 2022. ilus, tab
Article in English | LILACS | ID: biblio-1405225

ABSTRACT

SUMMARY: This study aimed to accurately localize the location and depth of the centre of the highest region of muscle spindle abundance (CHRMSA) of the triceps brachii muscle. Twenty-four adult cadavers were placed in the prone position. The curve connecting the acromion and lateral epicondyle of the humerus close to the skin was designed as the longitudinal reference line (L), and the curve connecting the lateral and the medial epicondyle of the humerus was designed as the horizontal reference line (H). Sihler's staining was used to visualize the dense intramuscular nerve region of the triceps brachii muscle. The abundance of muscle spindle was calculated after hematoxylin and eosin stain. CHRMSA was labelled by barium sulphate, and spiral computed tomography scanning and three- dimensional reconstruction were performed. Using the Syngo system, the projection points of CHRMSA on the posterior and anterior arm surface (P and P' points), the position of P points projected to the L and H lines (PL and PH points), and the depth of CHRMSA were determined. The PL of the CHRMSA of the long, medial, and lateral heads of the triceps brachii muscle were located at 34.83 %, 75.63 %, and 63.93 % of the L line, respectively, and the PH was located at 63.46 %, 69.62 %, and 56.07 % of the H line, respectively. In addition, the depth was located at 34.73 %, 35.48 %, and 35.85 % of the PP' line, respectively. These percentage values are all the means. These body surface locations and depths are suggested to be the optimal blocking targets for botulinum toxin A in the treatment of triceps brachii muscle spasticity.


RESUMEN: Este estudio tuvo como objetivo localizar con precisión la ubicación y la profundidad del centro de la región más alta del huso muscular (CHRMSA) del músculo tríceps braquial. Se colocaron veinticuatro cadáveres adultos en posición prona y se designó la curva que conecta el acromion y el epicóndilo lateral del húmero cerca de la piel como la línea de referencia longitudinal (L), y la curva que conecta los epicóndilos lateral y medial del húmero fue designada como la línea de referencia horizontal (H). Se usó la tinción de Sihler para visualizar la región nerviosa intramuscular densa del músculo tríceps braquial. La abundancia de huso muscular se calculó después de la tinción con hematoxilina y eosina. CHRMSA se marcó con sulfato de bario y se realizó una tomografía computarizada espiral y una reconstrucción tridimensional. Usando el sistema Syngo, fueron determinados los puntos de proyección de CHRMSA en la superficie posterior y anterior del brazo (puntos P y P'), la posición de los puntos P pro- yectados en las líneas L y H (puntos PL y PH) y la profundidad de CHRMSA. Los PL de la CHRMSA de las cabezas larga, medial y lateral del músculo tríceps braquial se ubicaron en el 34,83 %, 75,63 % y 63,93 % de la línea L, respectivamente, y el PH se ubicó en el 63,46 %, 69,62 %, y 56,07 % de la línea H, respectivamente. La profundidad se ubicó en el 34,73 %, 35,48 % y 35,85 % de la línea PP', respectivamente. Estos valores porcentuales son todas las medias. Se sugiere que estas ubicaciones y profundidades de la superficie corporal son los objetivos de bloqueo óptimos para la toxina botulínica A en el tratamiento de la espasticidad del músculo tríceps braquial.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Muscle, Skeletal/anatomy & histology , Muscle Spasticity , Arm/innervation , Cadaver , Muscle, Skeletal/innervation , Muscle, Skeletal/diagnostic imaging , Humerus
13.
Motriz (Online) ; 28: e10220009221, 2022. graf
Article in English | LILACS | ID: biblio-1351122

ABSTRACT

Abstract Aim: The present study aimed to compare the strength performance and the neuromuscular activity during one maximum repetition test (1RM), and the maximum voluntary isometric contractions (MVIC) performed with whole-body vibration (WBV), local vibration (LV), and no vibration (NV). Methods: The sample consisted of 15 males, experienced in strength training for at least 6 months, which performed all strength tests in the barbell curl exercise across randomized trials on the following conditions: NV, WBV, and LV. During all tests, the normalized root means square values of the electromyographic signals (EMGRMS) of the biceps brachii and brachioradialis were recorded and compared between the conditions. The one-way ANOVAs with repeated measures were used to compare the results of 1RM and MVIC tests and the normalized EMGRMS between the conditions. When necessary, a post hoc Scott-Knott test was used to identify the differences reported in the ANOVAs. The significance level adopted was α < 0.05. Results: The EMGRMS response of the biceps brachii and brachioradialis muscles during the 1RM and MVIC tests presented significantly higher values at LV compared to WBV, and NV (p < 0.001). The 1RM tests, and the MVIC results were similar between conditions (p = 0.9803; p = 0.061, respectively). Conclusion: These results indicate that the application of MV was not sufficient to increase strength performance.


Subject(s)
Humans , Exercise , Muscle Spindles , Electromyography/instrumentation , Resistance Training/instrumentation , Isometric Contraction
14.
Chinese Journal of Behavioral Medicine and Brain Science ; (12): 198-204, 2022.
Article in Chinese | WPRIM | ID: wpr-931924

ABSTRACT

Objective:To explore the effects of Chaihu-Shugan San (CSS) on the behavior and neurogenesis function of depression model mice induced by chronic unpredictable mild stress (CUMS).Methods:Thirty clean grade healthy male C57BL/6 adult mice were randomly divided into control group (Con group), model group (CUMS group) and Chaihu-Shugan San treatment group (CSS group), with 10 mice in each group.The mice in CUMS group and CSS group were given CUMS intervention to establish depression model. At the same time of modeling, the mice in CUMS group and CSS group were given distilled water and CSS(2.7 g/kg) by gavage respectively.While the mice in Con group were only given equal volume distilled water by gavage without CUMS stimulation.After the intervention, the depressive-like behavior of mice was evaluated by increased body weight, sugar water preference test (SPT), forced swimming test (FST) and tail suspension test (TST). The number of newborn neurons was detected by immunofluorescence staining. The mRNA expression levels of brain-derived neurotrophic factor (BDNF), fibroblast growth factor 2 (FGF2) and spindle and kinetochore-associated protein 2(SKA2) in mice hippocampus were detected by qRT-PCR.Statistical analysis was performed by SPSS 22.0 software. One-way ANOVA was used for multi group comparison, and Tukey test was used for pairwise comparison.Results:(1) After modeling, there was significant difference in body weight increment among the three groups ( F=8.859, P <0.05). The body weight increment of CUMS group was lower than those of Con group and CSS group (both P< 0.05). There were significant differences in sugar water preference rate, tail suspension immobility time and swimming immobility time among the three groups ( F=10.544, 12.957, 8.095, all P<0.05). The sugar water preference rate in CUMS group was lower than that in Con group ((87.46±2.78)%, (93.90±3.31)%, P<0.05), and that in CSS group was higher than that in CUMS group ((91.65±2.61)%)( P<0.05). The tail suspension immobility time ((198.00±27.57) s) and swimming immobility time ((322.20±46.98) s) in CUMS group were higher than those in Con group ((138.80±38.50) s, (238.50±50.51) s, both P<0.05). The tail suspension immobility time ((139.00±21.29) s) and swimming immobility time ((265.20±44.90) s) in CSS group were lower than those in CUMS group (both P<0.05). (2) Immunofluorescence showed that there was significant difference in the number of newborn neurons labeled by BrdU and NeuN in the dentate gyrus of hippocampus among the three groups ( F=9.486, P<0.05). The number of double labeled cells (31.66±3.21) in CUMS group was lower than that in Con group(63.66±15.17) and CSS group (58.00±6.00) (both P<0.05). (3) RT-PCR results showed that the mRNA levels of BDNF, FGF2, SKA2 in hippocampal dentate gyrus of the three group were significantly different( F=14.522, 9.337, 8.701, all P<0.05). The levels of BDNF mRNA (0.79±0.06), FGF2 mRNA (0.74±0.18) and SKA2 mRNA (0.52±0.32) in the dentate gyrus of hippocampus in CUMS group were lower than those in Con group (BDNF mRNA (1.03±0.10), FGF2 mRNA (1.04±0.11), SKA2 mRNA (1.05±0.37), all P<0.05). Compared with CUMS group, the mRNA levels of BDNF (1.07±0.80), FGF2 (1.30±0.29) and SKA2 (1.40±0.55) in CSS group were higher (all P<0.05). Conclusion:CSS can alleviate the depressive like behavior of depression model mice, which may be related with increasing the mRNA expression levels of BDNF, FGF2, SKA2 and promoting the proliferation of neural stem cells in hippocampus.

15.
Acta Academiae Medicinae Sinicae ; (6): 142-148, 2022.
Article in Chinese | WPRIM | ID: wpr-927858

ABSTRACT

Aurora kinase A (AURKA),a family member of aurora kinases,is involved in mitotic entry,maturation and separation of centrosome,assembly and stabilization of bipolar spindle,and condensation and separation of chromosome.Studies have demonstrated that AURKA plays a similar role in meiosis,while the specific mechanism and the similarities and differences in its role between meiosis and mitosis remain unclear.Therefore,we reviewed the studies about the localization and activation of AURKA in oocyte meiosis,and compared the role of AURKA in regulating spindle formation,activating spindle assembly checkpoint,and correcting the kinetochore-microtubule attachment between the meiosis of oocytes and the mitosis of somatic cells.This review will lay a theoretical foundation for revealing the mechanism of AURKA in the regulation of cell division and for the clinical research related to cancer and reproduction.


Subject(s)
Humans , Aurora Kinase A/genetics , Cell Cycle Proteins/genetics , Chromosome Segregation , Meiosis , Oocytes
16.
An. bras. dermatol ; 96(4): 451-453, July-Aug. 2021. graf
Article in English | LILACS | ID: biblio-1285104

ABSTRACT

Abstract Melanoma in childhood is rare and its diagnosis is more difficult than in adults, as it often presents histologic features overlapping with the Spitz nevus. The authors report the case of a 17-year old boy who was first diagnosed with Spitz nevus, however, the final diagnosis made after the excision of the tumor arising in the scar was changed to melanoma. The case in this present study emphasizes the importance of the differential diagnosis of skin tumors in young patients.


Subject(s)
Humans , Male , Child , Adolescent , Adult , Skin Neoplasms/surgery , Skin Neoplasms/diagnosis , Nevus, Epithelioid and Spindle Cell/surgery , Melanoma/surgery , Melanoma/diagnosis , Cicatrix , Diagnosis, Differential , Neoplasm Recurrence, Local/surgery
17.
Arch. argent. pediatr ; 119(1): e36-e40, feb. 2021. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1147255

ABSTRACT

El hemangioma fusocelular es una neoplasia vascular benigna infrecuente. Afecta la dermis y la hipodermis de la parte distal de las extremidades; la afectación de la cabeza y el cuello es muy poco frecuente y nunca se informó compromiso de los senos paranasales. Este es el caso de un lactante de 4 meses con obstrucción nasal desde las 2 semanas debido a un tumor en los senos etmoidales que obstruía las fosas nasales. Se diagnosticó hemangioma fusocelular y se extirpó parcialmente el tumor. A los seis meses de seguimiento, se observó una regresión mínima con lesiones residuales. A los 30 meses, se observó que el tumor residual había desaparecido. El hemangioma fusocelular es infrecuente en cabeza y cuello y, a veces, la presentación no es indicativa del diagnóstico. El examen histopatológico ayuda con el diagnóstico diferencial y el tratamiento. La sensibilización sobre el hemangioma fusocelular podría aumentar los casos informados.


Spindle cell hemangioma (SCH) is a benign unusual vascular neoplasm. It does not have gender predilection and can occur at all ages. The disease affects dermis and subcutis of distal extremities predominantly; head and neck involvement is very rare, paranasal sinus involvement has not been reported before. Herein we present a 4-month-old infant with nasal obstruction since two weeks of age due to a mass in ethmoid sinus obliterating the nasal passage. After the histopathological diagnosis of SCH, the tumor was partially resected. In the sixth month follow-up, there was minimal regression of residual lesions. In the imaging studies performed 30 months after the surgery, the residual mass was found to be disappeared. SCH is not frequent in the head and neck, and presentation of some patients may not suggest the diagnosis. Histopathology is important for differential diagnosis and to orientate treatment. Awareness of SCH may increase the reported cases


Subject(s)
Humans , Male , Infant , Paranasal Sinuses , Head and Neck Neoplasms/surgery , Hemangioma/diagnosis , Nasal Obstruction
18.
Clin. biomed. res ; 41(1): 65-74, 2021. ilus
Article in Portuguese | LILACS | ID: biblio-1255022

ABSTRACT

A Síndrome de Leigh (SL) é uma doença neuro-metabólica congênita, que faz parte do grupo das encefalopatias fatais, com progressão e morte dentro de 2 anos, em média. A SL é causada por mutações no DNA que causam alterações na geração de ATP celular pelas mitocôndrias. As mitocôndrias contêm seu próprio DNA (mtDNA) e, ao contrário do DNA nuclear, o mtDNA é herdado somente da mãe. Mulheres portadores de mutações causadoras da SL podem vivenciar experiências muito tristes ao tentarem realizar o sonho da maternidade. As técnicas de substituição de mtDNA mutado com mtDNA saudável de doadora, oferecem a essas mulheres a possibilidade de terem uma criança geneticamente relacionada sem a SL. O desenvolvimento e a aplicação clínica de terapias de substituição de mtDNA já são uma realidade, tendo o primeiro bebê gerado a partir da técnica nascido em 2016. Mas será que essas técnicas são seguras? Neste trabalho, revisamos a SL e algumas técnicas de substituição de mtDNA já aplicadas em humanos, que envolvem a transferência de pronúcleos de zigotos ou de fuso acromático de oócitos. Concluímos que, apesar dos resultados promissores, ainda é cedo para assegurar a aplicabilidade clínica de técnicas de substituição de mtDNA em seres humanos. (AU)


Leigh syndrome (SL) is a congenital neurometabolic disease included in the group of fatal encephalopathies, with progression and death within 2 years on average. SL is caused by mutations in the DNA that cause changes in the generation of cellular ATP by mitochondria. Mitochondria contain their own DNA (mtDNA) and, unlike nuclear DNA, mtDNA is inherited only from the mother. Women with SL mutations may experience mournful situations when attempting to fulfill the dream of motherhood. Techniques for replacing mutant mtDNA with healthy donor mtDNA provide these women with the possibility of having a genetically related child without SL. The development and clinical application of mtDNA replacement therapies is a reality, and the first baby generated using the technique was born in 2016. However, are these techniques safe? In this article, we review SL and some mtDNA replacement techniques that have been used in humans, which involve zygote pronuclear transfer or oocyte spindle transfer. We conclude that, despite the promising results, it is too early to ensure that mtDNA replacement techniques are clinically applicable to humans. (AU)


Subject(s)
DNA, Mitochondrial/genetics , Leigh Disease , Mitochondrial Diseases/therapy
19.
Chinese Journal of Microsurgery ; (6): 408-413, 2021.
Article in Chinese | WPRIM | ID: wpr-912261

ABSTRACT

Objective:To observe the denervation and reinnervation of the neuromuscular junction (NMJ) and muscle spindle after sciatic nerve crush in mice.Methods:From January, 2019 to October, 2019, 18 C57BL/6 mice were randomly and evenly divided into injured groups (sciatic nerve crush group, 12 mice) and control groups (sham group, 6 mice). Mice in the injured group were sacrificed at day-1, day-2, day-3 and 4 weeks after the sciatic nerve injury. Mice in the control group were sacrificed at day-3 and 4 weeks from the day of experiment. The tibialis anterior muscles with crushed nerve were collected for immunohistochemistry staining by neurofilament (NF), synaptophysin (Syn) and α-bungarotoxin (α-BTX). Data were analysed by unpaired t-test. P<0.05 was considered significant difference. Results:The completely denervation of NMJ reached (92.4±8.85)% at day-3 after the nerve crush, compared with (5.19±1.32)% in the control group ( P<0.05). However, the muscle spindle lost γ-motor neuron innervation at day-2 after the nerve crush and completely denervated at day-3 after the surgery. For the reinnervation, no difference of no reinnervation of NMJ [(3.02±0.78)% vs. (4.22±2.08)%], partial reinnervation of NMJ [(6.44±1.91)% vs. (7.94±2.12)%] and completely reinnervation of NMJ [(90.54±10.44)% vs. (87.84±13.89)%] were observed between the control group and the injured group 4 weeks after the injury. While, for the muscle spindle, only the acetylcholine receptors at each end were partly reinnervated. The innervation of the middle part of the muscle spindle was thin and discontinued without typical spiral winding structure. Conclusion:The denervation speed of NMJ and muscle spindle was comparable after the peripheral nerve injury. The γ-motor neuron lost innervation ahead of the sensory neuron in the muscle spindle. The reinnervation of NMJ is earlier than that of the muscle spindle, and the re-innervation of the γ-motor neuron is prior to the sensory neuron in the muscle spindle.

20.
Chinese Journal of Urology ; (12): 633-634, 2021.
Article in Chinese | WPRIM | ID: wpr-911084

ABSTRACT

Mucinous tubular and spindle cell carcinoma of the kidney is a rare subtype of renal carcinoma. In July 2019, one case of mucinous tubular and spindle cell carcinoma of the kidney was admitted to our hospital, The laparoscopic partial nephrectomy was performed, and there was no recurrence or metastasis during the follow-up period of 13 months. The disease has no obvious clinical manifestations and its diagnosis depends on pathological and immunohistochemical features. Surgical treatment is the main treatment for this disease, and most patients have a good prognosis.Howerer, the possibility of progression remains in the late stage of the disease.

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