Previous work has examined potential links between the etiology of GH deficiency (GHD) and the baseline characteristics of the patients including biochemical and psychometric parameters. Using an update of the KIMS pharmaco-epidemiological database (Pfizer International Metabolic Database), we addressed the question how well such results can be generalized and whether regional differences may play a role. From 30 different countries, 13 167 GH-deficient patients were included in KIMS at the data close in December 2008. In order to explore country-specific differences of baseline characteristics documented in KIMS, separate analyses of baseline characteristics of adult-onset GHD patients (nZ7708) were performed for the six largest contributing European countries and the United States. This analysis revealed striking regional variations in the pathogenesis of the disease, clinical characteristics such as body mass index, and in the classical features of the metabolic syndrome such as blood pressure or lipid status between countries. Moreover, the approach to endocrine function testing was widely different between countries, as well as the distribution of etiologies of GHD. These data suggest that a complex relation between biochemical and clinical signs of GHD exists, and that the spectrum of adult GHD syndrome is influenced by regional diagnostic and clinical particularities. European Journal of Endocrinology 161 S25-S31
examination of the upper and lower limbs revealed proximal muscle weakness MRC grade 3/5 in both upper and lower limbs. Due to her rapid decline (advancing muscle weakness on a daily basis), a neurological evaluation and a magnetic resonance imaging (MRI) were requested to exclude possible multiple sclerosis. The MRI brain did not show any relevant findings. The MRI spine revealed some congenital abnormalities. An immunological screen showed positive anti-Ro52/TRIM21 antibodies but negative anti-Jo1, anti-PL-7, anti-PL-12, anti-EJ, anti-OJ, anti-KS, anti-Zo, anti-Ha, anti-Mi-2, anti-MDA5, anti-155/140, anti-140, anti-SAE, anti-SRP, anti-HMGCR (anti 200/100), PM-Scl100, Ku and PM.Scl75 antibodies. Her blood tests showed elevated creatinine phosphokinase (CPK) at 38,040 U/L (normal range 136-145 U/L), lactic dehydrogenase (LDH) at 1,500 U/L (normal range 135-214 U/L), aspartate aminotransferase (AST) at 448 U/L and alanine aminotransferase (ALT) 225 U/L, whilst gamma-glutamyl transpeptidase (γGT), bilirubin and alkaline phosphatase were within normal range. Muscle carnitine levels were normal. The muscle biopsy showed acute non-inflammatory necrotising myopathy. In Fig. 1 below, we can see the initial patient presentation and the histological samples from the muscle biopsy.An electromyography study (EMG) was also conducted. The deltoid, rectus femoris, vastus lateralis, vastus medialis, tibialis anterior and soleus muscles were examined on both sides. The findings were consistent with polymyositis. Whole-body CT scan did not show any abnormal tumour growths. The patient was initially treated with high-dose IV methylprednisolone 1 g for 3 days and showed some minor initial improvement. When she was put on oral steroids, she rapidly deteriorated with more pronounced muscle weakness and dysphagia. Her deterioration was so rapid that she was transferred to the intensive care unit. Additional Sir, a 29-year-old lady presented 2 months post-partum with a 2-week history of hoarse voice, lethargy, progressively worsening proximal myopathy, peri-orbital oedema, rash on her upper chest, hands and face. Initial clinical presentation was that of dermatomyositis and the patient's general condition declined within a week of hospital admission with generalised paralysis and inability to breathe on her own. The patient was not expected to live.The patient had a 5-year history Hashimoto's thyroiditis, for which she was treated with 50 mcg thyroxine once daily. She had no history of smoking or alcohol consumption, nor any known allergies. She had a known thalassaemia trait. She had conceived through in vitro fertilisation treatment and had delivered with a caesarian section, epidural anaesthesia, a healthy baby girl at 38 weeks of gestation. This was a first and only pregnancy. She did not have any other past significant medical history nor any family history of note.Her thyroid peroxidase antibodies were elevated at 62.9 IU/ml, and her thyroglobulin antibodies were within normal range. Her respiratory, gastrointestinal, genitourina...
We report the case of an 85-year-old male with platypnoea-orthodeoxia associated with patent foramen ovale (PFO) and ectatic ascending aorta, in the absence of any significant pulmonary pathology.
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