Short stature with umbilical hernia - Not always due to cretinism: A report of two cases

Gadve, Sharvil S; Sarma, Debajit; Saikia, Uma Kaimal

doi:10.4103/2230-8210.95712

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…The significant reduction observed in CXCL5 levels and the different indicators of metabolic syndrome after the training program confirmed our hypotheses that exercise training can provide an effective approach to combating the harmful factors associated with obesity. As many other previous studies have clarified [ 23 , 24 ], this study has verified that exercise is effective in improving blood glucose and insulin resistance. Some of the insulin desensitizing effects observed during obesity development are mediated by adipokine.…”

Section: Discussionsupporting

confidence: 78%

Clinical immunology The effect of aerobic training on CXL5, tumor necrosis factor α and insulin resistance index (HOMA- IR) in sedentary obese women

Zehsaz

Farhangi

Mirheidari

2014

cejoi

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The purpose of the present study was to investigate the effects of a 12-week training program on serum CXC ligand 5, tumor necrosis factor α (TNF-α) and insulin resistance index in obese sedentary women. To this end, twenty-four obese sedentary women were evaluated before and after a 12-week exercise program including a brief warm-up, followed by ~45 min per session of aerobic exercise at an intensity of 60-75% of age-predicted maximum heart rate (~300 kcal/day), followed by a brief cool down, five times per week. After the exercise program, body weight, waist circumference, waist to hip ratio, percentage body fat mass, fasting glucose and insulin of participants were decreased. Furthermore, serum CXCL5 levels were significantly decreased from 2693.2 ±375.8 to 2290.2 ±345.9 pg/ml (p < 0.001) after the training program, which was accompanied with significantly decreased HOMA-IR (p < 0.001) and TNF-α (p < 0.001). Exercise training induced weight loss resulted in a significant reduction in serum CXCL5 concentrations and caused an improvement in insulin resistance in obese sedentary women.

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Section: Discussionsupporting

confidence: 78%

Clinical immunology The effect of aerobic training on CXL5, tumor necrosis factor α and insulin resistance index (HOMA- IR) in sedentary obese women

Zehsaz

Farhangi

Mirheidari

2014

cejoi

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“…In summary, short stature is a common presenting sign of attenuated MPS I, and may be the symptom that drives clinical care in these patients [ 36 , 48 , 49 ]. Since pediatric endocrinologists are typically the first physician to whom patients with short stature are referred [ 35 ], they can play a pivotal role in improving the health and quality of life of patients with attenuated MPS I.…”

Section: Discussionmentioning

confidence: 99%

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

et al. 2018

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BackgroundMucopolysaccharidosis type I (MPS I) results in significant disease burden and early treatment is important for optimal outcomes. Recognition of short stature and growth failure as symptoms of MPS I among pediatric endocrinologists may lead to earlier diagnosis and treatment.Case presentationA male patient first began experiencing hip pain at 5 years of age and was referred to an endocrinologist for short stature at age 7. Clinical history included recurrent respiratory infections, sleep apnea, moderate joint contractures, mild facial dysmorphic features, scoliosis, and umbilical hernia. Height was more than − 2 SD below the median at all time points. Growth velocity was below the 3rd percentile. Treatment for short stature included leuprolide acetate and recombinant human growth hormone. The patient was diagnosed with MPS I and began enzyme replacement therapy with laronidase at age 18.ConclusionsThe case study patient had many symptoms of MPS I yet remained undiagnosed for 11 years after presenting with short stature. The appropriate path to MPS I diagnosis when patients present with short stature and/or growth failure plus one or more of the common signs of attenuated disease is described. Improved awareness regarding association of short stature and growth failure with attenuated MPS I is needed since early identification and treatment significantly decreases disease burden.

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“…Corneal clouding, aside from the rare cases, is not common in MPS II [1,18,20]. The most common ocular findings are hypertelorism and exophthalmos, which can lead to chronic conditions related to corneal overexposure (i.e., corneal abrasions, keratoconjunctivitis, etc.)…”

Section: Mps IImentioning

confidence: 99%

Ophthalmological Findings in Mucopolysaccharidoses

Tomatsu

Pitz

Hampel

2019

JCM

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The mucopolysaccharidoses (MPS) are a heterogenous group of lysosomal storage disorders caused by the accumulation of glycosaminoglycans (GAGs). The accrual of these compounds results in phenotypically varied syndromes that produce multi-organ impairment with widespread systemic effects. The low incidence of MPS (approximately 1/25,000 live births) in conjunction with the high childhood mortality rate had limited the availability of research into certain clinical features, especially ocular manifestations. As the recent successes of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) have greatly increased life expectancy in these patients, they have served as a focal point for the transition of research towards improvement of quality of life. Ophthalmological findings in MPS include corneal clouding, glaucoma, optic neuropathies, and retinopathies. While corneal clouding is the most common ocular feature of MPS (especially type I, IVA, and VI), its response to HSCT and ERT is minimal. This review discusses known eye issues in the MPS subtypes, diagnosis of these ocular diseases, current clinical and surgical management, noteworthy research progress, and ultimately presents a direction for future studies.

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Short stature with umbilical hernia - Not always due to cretinism: A report of two cases

Cited by 4 publications

References 9 publications

Clinical immunology The effect of aerobic training on CXL5, tumor necrosis factor α and insulin resistance index (HOMA- IR) in sedentary obese women

Clinical immunology The effect of aerobic training on CXL5, tumor necrosis factor α and insulin resistance index (HOMA- IR) in sedentary obese women

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

Ophthalmological Findings in Mucopolysaccharidoses

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