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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases. The reported case is of particular interest: the distal limbs anomalies are peculiar with marked shortening of metacarpals and metatarsals. A review of the other cases is also reported and discussed in order to stress the most frequent manifestations of the syndrome and delineate the major clinical characteristics.
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PMID:[Cohen syndrome. Contribution to its clinical delineation]. 317 85

Snoring (inspiratory noise related to narrowing of the upper airways) and obstructive sleep apnea (OSA) are two aspects of the same basic disorder: sleep-related narrowing of the upper airways. Patients with OSA have been heavy snorers for years and even decades. Lying supine induces snoring and mild OSA in heavy snorers due to hypotonia of pharyngeal dilator muscles, decreasing waking neural drive and recumbent position, which contribute to functional narrowing of the upper airways. Functional factors in obstruction during sleep include (a) respiratory instability prevalent in the male sex, (b) increased extensibility of the lax tissues surrounding the oro-pharynx and (c) deficient contraction of the pharyngeal dilator muscles during inspiration. These effects are worsened by sleep deprivation and fragmentation, alcohol intake and sedatives. Anatomical factors favoring narrowing of the upper airways in snorers and OSA patients are (a) abnormally narrow airways as well as (b) increased thickness and length of the velum palatinum in snorers and OSA patients, (c) tonsillar and adenoid hypertrophy, micro- and retrognathia, and nasal insufficiency, (d) obesity with fat infiltration of the soft tissues and in particular of the oropharynx, (e) relatively open mandibular angle, hypertrophy and thickness of the tongue, and lowered hyoid bone (as shown by MRI imaging). It is possible that many anatomical abnormalities may be the consequence of snoring and obstructive apnea. During NREM sleep the ineffective inspiratory efforts progressively increase with worsening hypoxia and hypercapnia. The upper airways become patent again when arousal induces phasic activation of the dilator pharyngeal muscles.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Pathogenic aspects of snoring and obstructive apnea syndrome. 318 70

Snoring usually is trivial and unimportant, but it can turn into a social or medical problem. Obesity, hypertension and heart disease are more frequent among snorers than among nonsnorers, and especially snorers with hypersomnia during the day are at risk. Hypersomnia in association with snoring usually signifies obstructive sleep apnea. Increased resistance in the upper airways, together with negative inspiratory pharyngeal pressure and muscular hypotonia during deep non-REM and REM sleep, lead to collapse of the pharynx, hypoxia and hypercapnia. Only after arousal from sleep does muscle tone return, pharyngeal obstruction reopen and airflow resume. Since this process can occur 300 or 400 times a night, repetitive alveolar hypoventilation leads to pulmonary-arterial hypertension and cor pulmonale, and the repetitive sympathetic activations can cause systemic hypertension or serious cardiac arrhythmias. The countless arousals deprive the sufferer of deep non-REM and REM sleep and their consequence is sleep fragmentation. The symptoms are excessive daytime sleepiness, intellectual deterioration and personality and behavioral changes. Oronasomaxillofacial, endocrine and neuromuscular anomalies and diseases predispose to sleep apnea, and alcohol or CNS-depressant drugs can favour its occurrence. Diagnosis is made by nighttime oxymetry, and if this is abnormal, by polysomnography. After polysomnography it is possible to distinguish between obstructive and nonobstructive sleep apnea, and the decisions for an adequate treatment can be made.
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PMID:[Dangerous snoring. Sleep-apnea syndrome]. 331 92

Forty-six patients with Prader-Willi syndrome were examined to determine the incidence and character of ocular abnormalities. All patients met clinical criteria for this syndrome including infantile hypotonia, hypogonadism, truncal obesity, intellectual impairment, dysmorphic facies, and short stature. Thirty-two patients had best corrected visual acuities between 6/6 and 6/9 in each eye. Seven patients (15%) had myopia greater than -3.75 diopters. Nineteen (41%) patients had astigmatism of 1.25 diopters or greater. Amblyopia of strabismic, anisometropic, or ametropic etiology was present in 11 (24%) of the patients. Strabismus was present in 25 (54%) patients: 22 (48%) patients had esotropia and three (7%) had exotropia. Nine patients either received or required strabismus surgery. Thirty-three percent of the patients examined for iris transillumination defects had this finding. This study represents the first large series of patients with Prader-Willi syndrome to undergo detailed ophthalmologic evaluation. Recognition of this syndrome is important because of the high incidence of potentially treatable ocular problems.
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PMID:Ophthalmologic features of Prader-Willi syndrome. 339 59

Various degrees of persistent or paroxysmal paresis involving only the hindlimbs or all four limbs were observed in 3 dogs with hypothyroidism and lymphocytic thyroiditis. Clinical features included lethargy, obesity, alopecia, insidious and progressive paresis, hypotonia, and slow segmental reflexes in 2 dogs. Obesity, alopecia, paroxysmal paresis, and behavior change were observed in the third dog. Laboratory tests indicated that thyroid function was less than normal in all 3 dogs. Abnormal electromyographic potentials and slow motor nerve conduction velocities were found in each dog. Muscle biopsy specimen abnormalities included selective type-II myofiber atrophy in all dogs, whereas one dog had angular atrophy of type-I and type-II myofibers indicative of denervation. A substance that stained with para-aminosalicylic acid was observed within vacuoles of type-I myofibers in one dog. Lymphocytic thyroiditis characterized by lymphocytic infiltration of excised thyroid glands was observed in all dogs.
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PMID:Neuromuscular abnormalities associated with hypothyroidism and lymphocytic thyroiditis in three dogs. 355 92

A new familiar observation of Cohen syndrome in two brothers is reported. A patient exhibited the typical features of the disease, i.e. obesity, mental retardation, hypotonia, limb abnormalities and a characteristic craniofacial appearance. The frequency of clinical signs is reviewed from all the published reports.
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PMID:[Cohen syndrome in 2 brothers]. 356 Jul 67

Two male nonconsanguineous cases (aged 4 years) of Prader-Willi syndrome are clinically and cytologically studied. Both had obesity, marked hypogonadism, reduced head circumference, psychomotor impairment, hypotonia, tooth decay, small hands and feet, immature EEG. Case 1 showed a "de novo" translocation 7;15 and case 2 showed a normal karyotype. According to various authors, many cases of Prader-Willi syndrome show the presence of a translocation of chromosome 15 onto an autosome or X chromosome. This is the first observation of chromosome 7 involvement in this translocation.
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PMID:[Cytogenetic and clinical aspects of Prader-Willi syndrome]. 360 13

Deletions, duplications, and rearrangements of the long arm of chromosome 15 are frequently associated with the clinical diagnosis of the Prader-Willi syndrome. However, a number of other clinical entities have also been associated with similar, if not identical, cytogenetic defects, arguing for clinical heterogeneity associated with abnormalities in this region of chromosome 15. We present 3 patients who all appear to have deletions in 15q11-15q12, such as described for many patients with Prader-Willi syndrome; however, none of these patients has classical clinical features of the Prader-Willi syndrome. The first patient is a child with Williams syndrome, the second, Angelman (Happy Puppet) syndrome, and the third is a child with hypotonia of infancy, obesity, and developmental delay, but who does not meet specific diagnostic criteria for the Prader-Willi syndrome. It is proposed that different molecular abnormalities involving specific points or segments along the long arm of chromosome 15 might account for the clinical diversity seen among these and other patients.
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PMID:Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance. 367 17

We describe an apparent duplication of proximal 15q, i.e., 15q11q12 or 15q12q13 in two patients. Prometaphase chromosome analysis, C-banding and distamycin A/DAPI staining were used to exclude a translocation between the abnormal 15 homolog and another chromosome. The 2 patients have many manifestations of the Prader-Willi syndrome (PWS) including at least 5 of the following: obesity, compulsive eating, mental retardation, short stature, central hypotonia, hypogonadism, small hands and feet, hypopigmentation, and feeding problems in infancy. Results of high resolution chromosome analysis of the parents of both patients were normal. A comparison between these patients and 2 subjects from previous reports demonstrates phenotypic heterogeneity among the duplication 15q PWS patients. Two patients have the hypopigmentation seen in chromosomally normal and deletion PWS patients. These cases add to the variety of chromosome 15 aberrations which are associated with PWS.
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PMID:Duplication of proximal 15q as a cause of Prader-Willi syndrome. 368 17

A 16-year-old boy with Prader-Labhart-Willi syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the PLWS. IQ is estimated around 90. Cytogenetic studies showed mosaicism: 45,X, t(Y;15) with partial deletion 15 (15pter----15q12); 46,X, t(Y;15), dic (15)(15pter----15q12::15q12----15pter) and 47, X, t(Y;15), dic(15), dic(15). The dic(15) was bisatellited, NOR-positive on both arms and represented inv dup(15). Thus, the 2 lines with the dic(15) showed partial trisomy 15 (15pter----15q12) and partial pentasomy 15 (15pter----15q12), respectively. The cell line ratios were different in lymphocyte and fibroblast cultures. The unique cytogenetic findings in this patient, the reports of a variety of chromosome 15 aberrations in PLWS, as well as aberrations of other chromosomes, suggest that the condition is a contiguous gene syndrome rather than an aneuploidy syndrome.
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PMID:Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome? 368 18


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