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Primary intracranial germ cell tumors are rare tumors that often occur in children and young adults. We report a case of a 17-year-old male, who presented with vomiting, headache, and blurring of vision of the left eye on the temporal aspect for two months. His biological assessment showed panhypopituitarism. Serum markers showed elevated beta human chorionic gonadotropin and lactate dehydrogenase. A solid cystic lesion was noted on imaging, involving the sella, parasellar region, and pineal region with calcifications within. Diagnosis of bifocal germinoma was confirmed by tumor biopsy. The treatment protocol for the patient involved four cycles of chemotherapy using etoposide and carboplatin, followed by a course of radiotherapy.
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The staging of malignancy is critical for its effective management. 18F-fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET/CT) imaging is a common modality for malignancy staging, which identifies areas of FDG avidity. However, multiple benign etiologies can cause false-positive 18F FDG-avid nodes. Among these, extrapulmonary involvement of anthracosis in the form of lymphadenopathy is a rare entity. In patients with concomitant malignancies, the presence of 18F FDG-avid anthracotic lymph nodal enlargement may mimic nodal metastasis. Endosonography-guided tissue acquisition may help differentiate between the two. Herein, we describe six cases of FDG-avid benign anthracotic lymphadenitis detected during staging workups for patients with malignancies who later underwent curative resection.
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Introduction: Fatigue is a common yet not frequently explored complication of diabetes. There are fewer studies available on the impact of diabetes on the severity of fatigue and the functional status of patients. Methods: Fifty individuals meeting the inclusion criteria were included. The individuals were divided into two groups: group A (diabetic elderly individuals) and group B (nondiabetic age and gender-matched individuals). An observational analytical study was conducted. Outcome measures used were: fatigue severity scale (FSS), lower extremity functional scale (LEFS), 6-minute walk distance (6MWD), and 30-second chair stand test. SPSS 16 was used to analyze data. Results: As per the normality test, a between-group comparison of fatigue severity scale (FSS) score, chair stand test score, and LEFS score was carried out by a nonparametric Mann-Whitney test, which showed a statistically significant difference between the groups (P < 0.05). Between-group comparison of 6MWD was carried out by parametric unpaired t test. The results showed a statistically significant difference in the distance walked by both groups. Conclusion: Higher levels of fatigue and impaired functional status along with reduced strength and function of lower limbs was seen in elderly patients with type 2 diabetes Inclusion of symptom assessment and strategies to reduce the burden of fatigue in diabetes patient should be incorporated.
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Cancer remains a global health challenge, demanding novel therapeutic options due to the debilitating side effects of conventional treatments on healthy tissues. The review highlights the potential of L-methioninase, a pyridoxal-5-phosphate (PLP)-dependent enzyme, as a promising avenue in alternative cancer therapy. L-methioninase offers a unique advantage, its ability to selectively target and inhibit the growth of cancer cells without harming healthy cells. This selectivity arises because tumor cells lack an essential enzyme called methionine synthase, which healthy cells use to make the vital amino acid L-methionine. Several sources harbor L-methioninase, including bacteria, fungi, plants, and protozoa. Future research efforts can explore and exploit this diverse range of sources to improve the therapeutic potential of L-methioninase in the fight against cancer. Despite challenges, research actively explores microbial L-methioninase for its anticancer potential. This review examines the enzyme's side effects, advancements in combination therapies, recombinant technologies, polymer conjugation and novel delivery methods like nanoparticles, while highlighting the success of oral administration in preclinical trials. Beyond its promising role in cancer therapy, L-methioninase holds potential applications in food science, antioxidants, and various health concerns like diabetes, cardiovascular issues, and neurodegenerative diseases. This review provides a piece of current knowledge and future prospects of L-methioninase, exploring its diverse therapeutic potential.
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Liasas de Carbono-Azufre , Neoplasias , Humanos , Liasas de Carbono-Azufre/metabolismo , Neoplasias/tratamiento farmacológico , Terapia Combinada , Hongos/metabolismo , Metionina/metabolismo , Proteínas Recombinantes/uso terapéuticoRESUMEN
Soft tissue sarcomas form 1% of all cancers and are rare. The lower limb is one of the commonest sites of sarcoma, with the thigh accounting for the majority of these tumors. Large tumors abut the neurovascular bundles both anteriorly and in the hamstring compartment. Nerve involvement, especially the major nerves such as the femoral and the sciatic, by these tumors, was considered to be an absolute contraindication for limb salvage procedures. We present our data of major nerve resection without amputation, in an attempt to demonstrate the possibility of equivalent functional and oncological outcomes in these rare tumors. A total of 86 cases of extremity soft tissue sarcomas were operated on during the period September 2019 to September 2022, of which there were 12 cases of major nerve resections of the lower extremity. These patients were followed up and their clinicopathological data collected and analyzed. The functional outcome was recorded at different intervals. Of the 12 patients who underwent nerve resection along with the tumor, only 1 patient developed a local recurrence. Two patients developed multiple lung metastases, and the other 9 patients are alive and free of disease, with a median follow-up of 26 months. The MSTS score was assessed at 1 month post-surgery, 3 months, 6 months, and 1 year post-surgery. Except for one patient where the score was 20%, all the other patients had scores of 80% or more. Major nerve involvement by soft tissue sarcomas is not an indication for amputation. Limb salvage can be performed with no effect on the oncological outcomes.
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INTRODUCTION: Among children who suffer from acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP), acute pancreatitis (AP) episodes are painful, often require hospitalization, and contribute to disease complications and progression. Despite this recognition, there are currently no interventions to prevent AP episodes. In this retrospective cohort study, we assessed the impact of pancreatic enzyme therapy (PERT) use on clinical outcomes among children with pancreatic-sufficient ARP or CP. METHODS: Children with pancreatic-sufficient ARP or CP in the INSPPIRE-2 cohort were included. Clinical outcomes were compared for those receiving vs not receiving PERT, as well as frequency of AP before and after PERT. Logistic regression was used to study the association between development of AP episodes after starting PERT and response predictors. RESULTS: Among 356 pancreatic-sufficient participants, 270 (76%) had ARP, and 60 (17%) received PERT. Among those on PERT, 42% did not have a subsequent AP episode, during a mean 2.1 years of follow-up. Children with a SPINK1 mutation ( P = 0.005) and those with ARP (compared with CP, P = 0.008) were less likely to have an AP episode after starting PERT. After initiation of PERT, the mean AP annual incidence rate decreased from 3.14 down to 0.71 ( P < 0.001). DISCUSSION: In a retrospective analysis, use of PERT was associated with a reduction in the incidence rate of AP among children with pancreatic-sufficient ARP or CP. These results support the need for a clinical trial to evaluate the efficacy of PERT to improve clinical outcomes among children with ARP or CP.
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OBJECTIVE: To study the clinicopathologic prognostic parameters of malignant adult renal tumors as these have poor over-all survival (OS) and show frequent metastasis. MATERIAL AND METHODS: This was a retrospective analysis of the clinical and pathologic features of malignant renal tumors in adult patients from January 2011 to December 2020. All the tumors were studied with respect to age, clinical presentation, tumor type/subtype, histologic grade (WHO/ISUP grading system), TNM stage and presence of necrosis. Correlation of histopathologic features and survival analysis was done using Kaplan-Meier survival curves and Cox-regression analysis. RESULTS: A total of 257 cases were included in the study period including 253 renal cell tumors of which clear cell renal cell carcinoma accounted for 69.3%. The age of the patients ranged from 20 to 87 years (median-52 years). The overall survival significantly reduced with increasing histologic grade, stage, and presence of necrosis. The comparison between the histological subtypes was not statistically significant. Univariate Cox-regression analysis found significant hazard ratio with increasing age, size, histologic grade (G4 vs G1), stage, and presence of necrosis. The correlation of OS with histological subtypes was not significant. Multivariate analysis also showed increased hazard ratio with increasing age, size, grade, and stage. However, the P-value was significant only for age. CONCLUSION: Clear cell renal cell carcinoma was the commonest type of adult renal tumor. Older age at presentation, larger tumor size, presence of necrosis, and higher histologic grade and stage were associated with poor prognosis in these patients.
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Carcinoma de Células Renales , Neoplasias Renales , Adulto , Humanos , Adulto Joven , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Carcinoma de Células Renales/patología , Pronóstico , Estudios Retrospectivos , Neoplasias Renales/patología , Necrosis/patología , Estadificación de NeoplasiasRESUMEN
The global COVID-19 pandemic has led to an increase in the importance of implementing effective measures to prevent the spread of microorganisms. Consequently, there is a growing demand for antimicrobial materials, specifically antimicrobial textiles and face masks, because of the surge in diseases caused by bacteria and viruses like SARS-CoV-2. Face masks that possess built-in antibacterial properties can rapidly deactivate microorganisms, enabling reuse and reducing the incidence of illnesses. Among the numerous types of inorganic nanomaterials, copper oxide nanoparticles (CuO NPs) have been identified as cost-effective and highly efficient antimicrobial agents for inactivating microbes. Furthermore, biosurfactants have recently been recognized for their potential antimicrobial effects, in addition to inorganic nanoparticles. Therefore, this research's primary focus is synthesizing biosurfactant-mediated CuO NPs, integrating them into natural and synthetic fabrics such as cotton and polypropylene and evaluating the resulting fabrics' antimicrobial activity. Using rhamnolipid (RL) as a biosurfactant and employing a hydrothermal method with a pH range of 9-11, RL-capped CuO NPs are synthesized (RL-CuO NPs). To assess their effectiveness against gram-positive (Staphylococcus aureus) and gram-negative (Escherichia coli) microorganisms, the RL-CuO NPs are subjected to antibacterial testing. The RL-capped CuO NPs exhibited antimicrobial activity at much lower concentrations than the individual RL, CuO. RL-CuO NPs have shown a minimum inhibitory concentration (MIC) of 1.2 mg ml-1and minimum bactericidal concentration (MBC) of 1.6 mg ml-1forE. coliand a MIC of 0.8 mg ml-1and a MBC of 1.2 mg ml-1forS. aureus, respectively. Furthermore, the developed RL-CuO NPs are incorporated into cotton and polypropylene fabrics using a screen-printing technique. Subsequently, the antimicrobial activity of the coated fabrics is evaluated, revealing that RL-CuO NPs coated fabrics exhibited remarkable antibacterial properties against both gram-positive and gram-negative bacteria.
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Antiinfecciosos , Nanopartículas del Metal , Nanopartículas , Humanos , Antibacterianos/farmacología , Antibacterianos/química , Polipropilenos/farmacología , Pandemias , Bacterias Gramnegativas , Bacterias Grampositivas , Antiinfecciosos/farmacología , Nanopartículas/química , Textiles , Nanopartículas del Metal/química , Cobre/farmacología , Cobre/químicaRESUMEN
PURPOSE: Diffuse Midline Glioma (DMG) with H3K27M mutation is a rare and aggressive midline high grade glioma with a predominant astrocytic differentiation and K27M mutation in either H3F3A or HIST1H3B/C. This tumor is more common in children than in adults. The current study was aimed to determine clinicohistoradiological and surgical outcome of patients who have undergone surgery for DMG and study disease severity of patients with DMG. METHODS: This is an observational study in which 29 DMG patients were evaluated for clinicohistoradiological and surgical outcomes by assessing the pre and postoperative neurological status. RESULT: Survival duration was significantly high in patients with age > 18 years (p = 0.02). Patients who had undergone Radiation Therapy showed higher survival rate (p = 0.05) and the cases with low levels of Ki 67 index had improved post operative outcome (p = 0.002). CONCLUSION: DMG with H3K27M mutation in newly classified Central Nervous System tumor are WHO grade IV Tumors, comprising H3K27M mutation as molecular marker for diagnosis and related with a poor prognosis.
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Neoplasias Encefálicas , Glioma , Niño , Adulto , Humanos , Persona de Mediana Edad , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/cirugía , Neoplasias Encefálicas/patología , Histonas/genética , Glioma/genética , Glioma/cirugía , Glioma/diagnóstico , Mutación/genética , Resultado del TratamientoRESUMEN
Ovarian cancers are a heterogeneous group of malignant tumors that differ with respect to pathogenesis, morphology, molecular features, and behavior. Pathologists and clinicians need to be aware of the advances in diagnosis and the changes which occur after chemotherapy to offer the optimal treatment to each patient. The present work aims to study the morphologic and immunohistochemical (IHC) profile of primary ovarian cancers with an assessment of post-chemotherapy changes. A total of 51 cases were included in the study from June 2017 to June 2019 (prospective and retrospective). The demographic and clinical details of the patients were collected. The gross and microscopic features of the tumors were studied, and the post-chemotherapy changes were evaluated. A chi-square test was used to determine the association of tumor morphology, the chemotherapy response score (CRS), and stage of the tumor with survival (PFS and OS). The mean patient age was 47.5 years, and high-grade serous carcinoma (66.6%) (HGSC) was the most common subtype followed by mucinous carcinoma and endometrioid carcinoma. Immunohistochemical analysis with WT1 and p53 helped in the diagnosis of HGSC. The CRS was 1 and 2 in most of the cases. The follow-up for patients of HGSC was available for a period of 1-27 months with a mean survival for primary resection of 24 months and for post-NACT resection was 17 months. This difference was not statistically significant (p = 0.38). High-grade serous carcinoma was the most common ovarian cancer in our series, and immunohistochemistry played an important role in the diagnosis. We could not demonstrate any survival benefit of preoperative chemotherapy in our series.
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PURPOSE OF REVIEW: Pediatric acute pancreatitis is an infrequent but potentially serious condition in children. Most have mild cases with spontaneous resolution, but up to one-third of patients can have moderate or severe disease or progress to recurrent or chronic pancreatitis. RECENT FINDINGS: Significant advances have been made in the field of pediatric pancreatology with a recognition that pediatric acute pancreatitis can vary significantly from adult disease with different risk factors and outcomes. There is better understanding of appropriate management for pediatric pancreatitis as well as growing literature in complications of pancreatitis. SUMMARY: The most common risk factors for pediatric acute pancreatitis include biliary disease, drug/toxin and idiopathic. Management involves adequate fluid resuscitation, early enteral nutrition and appropriate pain control. Systemic and local complications, including SIRS, necrosis and fluid collections, can occur in up to one-third of patients and care is largely supportive with a careful step-up approach to fluid collections and necrosis.
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Pancreatitis Crónica , Adulto , Humanos , Niño , Enfermedad Aguda , Factores de Riesgo , NecrosisRESUMEN
Background: Diagnosis of hepatocellular carcinoma (HCC) is difficult on morphology alone in poorly differentiated tumors and metastatic carcinomas. Appropriate immunohistochemical markers are required for definite diagnosis. In this article, we have analyzed the histopathological and immunohistochemical features of HCC and elucidate the best possible immunohistochemistry (IHC) marker combination by comparing the sensitivity of various markers in different grades of tumor. Methods: A total of 116 consecutive cases were analyzed retrospectively. The hematoxylin and eosin stained sections were reviewed in all the cases. IHC was done using hepatocellular specific antigen (HSA), arginase-1, glypican-3, and polyclonal carcinoembryonic antigen (pCEA). The sensitivity of various immunohistochemical markers individually as well as in combination for different tumor grades was determined. Results: Histologically, the predominant subtype comprised of classic variant (109,93.9%) followed by combined hepatocellular and cholangiocarcinoma (4,3.4%) and fibrolamellar variant (3,2.6%). Trabecular pattern was the most common histological pattern. On grading, 65,56.03% were moderately differentiated, 34,29.31% well differentiated, and17, 14.65% poorly differentiated. HSA and polyclonal-CEA showed higher sensitivity than arginase-1 and glypican-3 in well and moderately differentiated tumors. In contrast arginase-1 and glypican-3 showed better sensitivity in poorly differentiated HCC. The overall sensitivity increased to greater than 90% if HSA/polyclonal-CEA is combined with either arginase-1/glypican-3 irrespective of tumor grade. Conclusion: Majority of the tumors were classic variants and moderately differentiated. HSA along with either arginase-1 or glypican-3 is the best combination of immunomarker for identification of hepatocellular differentiation irrespective of tumor grade.
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Neoplasias de los Conductos Biliares , Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/patología , Neoplasias Hepáticas/patología , Antígeno Carcinoembrionario , Glipicanos , Arginasa , Estudios Retrospectivos , Centros de Atención Terciaria , Biomarcadores de Tumor , Conductos Biliares Intrahepáticos/patología , Diagnóstico DiferencialRESUMEN
The emergence of Coronavirus 19 led to societal and behavioral changes, including intensified use of many public parks and trails for mental respite and leisure time physical activity. As visitors sought stress-relief in the great outdoors, they also encountered stressful situations as they navigated risk exposure. Recommendations to physically distance between parties was a key component to reduce risk, but compliance is unknown in the outdoor arena. This observational study of more than 10 000 trail user encounters documented distancing and enabled predictive analysis that revealed wider trails, smaller groups and signage led to greater distancing compliance. Managers and planners can integrate these findings immediately and in consideration of future trail designs to minimize risk exposure. Management implications: Select site features increase odds of distancing compliance and can inform management decisions and designs immediately and in addressing future use surges: wider trails, unpaved surfaces, and COVID-19 signage.As distancing compliance waned with time but signage increased compliance, innovative and dynamic signs may sustain compliance and multi-media communications should be considered.Both activity size and group type influence distancing so considering group size recommendations and activity separation are in order.
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Background: Musculoskeletal disorders (MSDs) are conditions that are caused and/or aggravated by work. The most important reason behind work-related musculoskeletal disorder is abnormal and/or stressful position of joints while working. Physiotherapists are very much prone to develop work-related musculoskeletal disorders, especially while treating neurologically challenged patients. Postural assessment is a key to identify a person at risk of developing work-related musculoskeletal disorders. Proper assessment of some of the areas like neck, spine, upper and lower extremities is the key to get risk factor analysis. REBA (Rapid Entire Body Assessment) is a tool which can be used on field to quantify areas of the body which are more likely to develop work-related musculoskeletal disorders. Aims: To find out risk of MSDs among physiotherapists treating neurologically challenged patients. Study Setting and Design: At neuro-paediatric department of SBB College of Physiotherapy, an observational pilot study was conducted. Materials and Methods: Photographs of the participants were captured with their consent through smart phone camera during treatment of different patients both adult and paediatric. Selected postures were analysed and quantified based on the REBA sheet. Statistical Analysis: Descriptive analysis was done based on areas at higher risk for MSDs according to REBA sheet. Results: More than 50% of participants were at moderate to high risk of developing MSDs. Conclusion: Physiotherapists working with neurological patients were found to be at high to medium risk of work-related musculoskeletal disorders. There is a need to assess MSD risk in detail in all physiotherapists.
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BACKGROUND: Endoscopic ultrasound (EUS)-guided tissue acquisition is the preferred modality for diagnosing pancreatic lesions and mediastinal and abdominal lymph nodes. Rapid on-site cytologic evaluation improves the diagnostic outcome of EUS-guided fine-needle aspiration (FNA) but is unavailable at many centers. Alternatively, macroscopic on-site evaluation (MOSE) may improve the diagnostic outcome of EUS-FNA, but data are limited. Hence, the present study was conducted to assess the efficacy of MOSE in improving adequacy and accuracy. METHODS: We retrospectively analyzed data of consecutive patients with pancreatic or lymph nodal lesions undergoing EUS-guided FNA at a tertiary care center from December 2020 to December 2022. The study's primary outcomes were adequacy and diagnostic accuracy of the EUS-guided tissue acquisition, with secondary analysis of predictors of adequacy and accuracy. RESULTS: Data from 124 patients (44.4% male, median age: 54 years) who underwent EUS-FNA were included in the present analysis. The presence of macroscopic visible core (MVC) on MOSE was reported in 93/124 (75%) cases. An adequate sample for histopathological or cytological examination was obtained in 110/124 (88.7%) cases, while the diagnostic accuracy was 85.5%. On multivariate analysis, the absence of MVC on MOSE was found to be the independent negative predictor of both adequacy (OR 0.092, 95% CI: 0.024-0.349) and accuracy (OR 0.175, 95% CI: 0.057-0.536). CONCLUSION: The presence of MVC on MOSE can be an indicator of specimen adequacy and can improve the diagnostic yield of EUS-FNA.
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Choriocarcinoma occurs mainly in the gonads, but an extragonadal origin has been reported, albeit infrequently. Primary hepatic choriocarcinoma (PHC) is a rare malignancy, with only 11 cases reported. Most cases reported were in males, with none reported in pregnant females. A 23-year-old primigravida presented with a large liver lesion involving the right lobe of the liver at 28 weeks of pregnancy. Preoperative imaging was suggestive of hepatocellular carcinoma. She underwent a non-anatomical resection of the liver lesion. Surprisingly, her postoperative histopathology revealed a diagnosis of PHC. Her blood workup showed elevated beta human chorionic gonadotrophin. She underwent a termination of her pregnancy at 32 weeks. Before initiating adjuvant chemotherapy four weeks after surgery, a whole-body PET scan revealed multiple bi-lobar liver and pelvic deposits. After a multidisciplinary team discussion, she was started on adjuvant chemotherapy. She is currently under regular follow-up, seven months post-surgery. PHC, one of the vascular lesions of the liver, poses a diagnostic and therapeutic challenge, warranting a multidisciplinary approach.
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Carcinoma Hepatocelular , Coriocarcinoma , Neoplasias Hepáticas , Humanos , Embarazo , Femenino , Adulto Joven , Adulto , Coriocarcinoma/diagnósticoRESUMEN
Choriocarcinoma occurs mainly in the gonads, but an extragonadal origin has been reported, albeit infrequently. Primary hepatic choriocarcinoma (PHC) is a rare malignancy, with only 11 cases reported. Most cases reported were in males, with none reported in pregnant females. A 23-year-old primigravida presented with a large liver lesion involving the right lobe of the liver at 28 weeks of pregnancy. Preoperative imaging was suggestive of hepatocellular carcinoma. She underwent a non-anatomical resection of the liver lesion. Surprisingly, her postoperative histopathology revealed a diagnosis of PHC. Her blood workup showed elevated beta human chorionic gonadotrophin. She underwent a termination of her pregnancy at 32 weeks. Before initiating adjuvant chemotherapy four weeks after surgery, a whole-body PET scan revealed multiple bi-lobar liver and pelvic deposits. After a multidisciplinary team discussion, she was started on adjuvant chemotherapy. She is currently under regular follow-up, seven months post-surgery. PHC, one of the vascular lesions of the liver, poses a diagnostic and therapeutic challenge, warranting a multidisciplinary approach.
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Clubroot disease caused by Plasmodiophora brassicae is one of the serious threats to canola (Brassica napus L. subsp. napus) production. The evolution of new pathotypes rendering available resistances ineffective compel the introgression of new resistance into canola and extend our understanding of the genetic and molecular basis of the resistance. In this paper, we report the genetic and molecular basis of clubroot resistance in canola, introgressed from a rutabaga (B. napus L. subsp. rapifera Metzg. 'Polycross'), by using a doubled-haploid (DH) mapping population. Whole-genome resequencing (WGRS)-based bulked segregant analysis followed by genetic mapping and expression analysis of the genes in resistant and susceptible DH lines at 7 and 14 d after inoculation were carried out. Following this approach, two major quantitative trait loci (QTL) located at 14.41-15.44 Mb of A03 and at 9.96-11.09 Mb of A08 chromosomes and their interaction was observed to confer resistance to pathotypes 3H, 3A, and 3D. Analysis of the genes from the two QTL regions suggested that decreased expression of sugar transporter genes (BnaA03g29290D and BnaA03g29310D) may play an important role in resistance conferred by the A03 QTL, while increased expression of the toll/interleukin-1 receptor (TIR)-nucleotide binding (NB)-leucine rich repeat (LRR) (TNL) genes (BnaA08g10100D, BnaA08g09220D, and BnaA08g10540D) could be the major determinant of the resistance conferred by the A08 QTL. Single-nucleotide polymorphism (SNP) allele-specific polymerase chain reaction (PCR)-based markers, which could be detected by agarose gel electrophoresis, were also developed from the two QTL regions for use in breeding including pyramiding of multiple clubroot resistance genes.
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Brassica napus , Brassica napus/genética , Resistencia a la Enfermedad/genética , Leucina , Fitomejoramiento , Enfermedades de las Plantas/genética , Receptores de Interleucina-1 , AzúcaresRESUMEN
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD. Childhood and adult-onset muscular dystrophies include dystrophinopathies, limb-girdle muscular dystrophies, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. Traditionally, muscle biopsy and histopathology along with special pathology techniques such as immunohistochemistry or immunoblotting were used for the diagnosis of muscular dystrophies. However, recent advances in molecular genetic testing, especially the next-generation sequencing technology, have revolutionized the diagnosis of muscular dystrophies. Identification of the underlying genetic basis helps in appropriate management and prognostication of the affected individual and genetic counseling of the family. In addition, identification of the exact disease-causing mutations is necessary for accurate prenatal genetic testing and carrier testing, to prevent recurrence in the family. Mutation identification is also essential for initiating mutation-specific therapies (which have been developed recently, especially for Duchenne muscular dystrophy) and for enrolment of patients into ongoing therapeutic clinical trials. The 'genetic testing first' approach has now become the norm in most centers. Nonetheless, muscle biopsy-based testing still has an important role to play, especially for cases where genetic testing is negative or inconclusive for the etiology.