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At least 559 records · Page 31Linked to original sources
PubMed1999

[Cardiac deformity and dysfunction in facioscapulohumeral dystrophy--electrocardiogram, ECG gate cardiac MRI studies].

We studied the cardiac deformity and dysfunction in 8 patients with facio-scapulo-humeral (FSH) muscular dystrophy by electrocardiogram (ECG) and ECG gated cardiac magnetic resonance imaging (MRI). Two of the 8 FSH patients revealed elevated P waves and 3 of these patients revealed multifocal atrial premature contractions (APC) on ECG as reported previously. On ECG-gated MRI, the flattened thorax with anteriorly shifted vertebrae restricted the right ventricular movement. On the other hand, the right atrium is often enlarged. It is known that the patients suffering from severe "funnel chest" or "straight back syndrome" often develop similar ECG abnormalities and right atrial dysfunction resulting from restricted right ventricular dilatation. Although a possibility that the abnormal P waves or multifocal APC frequently observed in FSH are caused by myocardial degeneration selectively occurring in right atrium remains to be excluded, the characteristic thoracic deformity may play a primary role in the development of cardiac problems in this hereditary muscular disorder.

Adult↗
PubMed2000

[Anesthetic management for a patient with spondyloepiphyseal dysplasia congenita].

An 11-year-old girl with spondyloepiphyseal dysplasia congenita in the spine was scheduled for virectomy under general anesthesia. She had slight scoliosis in the thoracic and lumbar spine, moderate funnel chest and slight thoracic kyphosis. Preoperative laboratory data were within normal range and her intelligence was normal. Her Mallanpathi's score, however, was Grade 3 and effective mandibular length/posterior depth of mandible ratio was 3.48 on the lateral view of head X-ray. From these data, difficult intubation was expected. Although anesthesia was induced uneventfully using thiamylal and vecuronium, her vocal cord was not visualized under laryngoscope. Using cricoid pressure procedure, slightly left-shifted vocal cord was exposed. However a 26 Fr. size endotracheal tube without cuff was too large and finally a 22 Fr. tube was inserted. During the operation patient's general condition was stable and the operation was finished without any episodes. She did not have any complications in the postoperative period. In a case of SDC, pathological changes in laryngotracheal resion should be examined and evaluated preoperatively and difficult intubation should also be always taken into account.

Anesthesia, General↗
PubMed2002

[Facioscapulohumeral muscular dystrophy with sinus dysfunction].

We report a 47-year-old man with facioscapulohumeral muscular dystrophy (FSHD) presenting with sinus dysfunction. He became unable to roll over and stand up at the age of 42, but he could still walk. Facial muscle involvement, scapular winging, asymmetrical involvement, funnel chest, and the absence of contractures were typical of FSHD. Electrocardiogram (ECG) and cardiac echogram showed the overload of both right atrium and ventricle. On Holter ECG, transient P wave inversion and P-P interval elongation (maximally 2.4 seconds) repeatedly appeared mainly during sleep. There was no bundle branch block, atrioventricular junctional rhythm, or increase of premature ventricular beats. Vital capacity was decreased (0.62 L, 16% of the predicted value). Arterial blood gas analysis showed hypercapnia and hypoxia which aggravated during sleep (PaCO2 87.3Torr, PaO2 41.5Torr). Sleep apnea was not observed. Intracardiac ECG was not performed and he died 2 weeks later. In FSHD, sinus node dysfunction may become distinct especially in the setting of respiratory failure.

Electrocardiography, Ambulatory↗
PubMedDate not supplied

[Continuous epidural ropivacaine analgesia in adolescents].

The paper deals with the efficiency of postoperative analgesia after thoracoplasty in 43 adolescents with the funnel chest. Within the first 64-72 postoperative hours, the patients received a continuous epidural infusion of 0.2% ropivacaine solution at a rate of 0.3 ml/kg/hr. Analyses of hemodynamic parameters and the pain scale demonstrated the efficiency of this postoperative analgesia in 74.4% of the adolescents.

Adolescent↗
PubMed1991

Neonatal myotubular myopathy with respiratory distress: report of a case.

The case of a 2-day-old male full-term newborn with myotubular (centronuclear) myopathy is reported. He presented with generalized hypotonia and muscle weakness, swallowing disturbance, and respiratory distress at birth. He had a typical myopathic face, high-arched palate, funnel chest, and mild bilateral ptosis. Deep tendon reflexes were absent. Serum creatine kinase was normal. The histologic examination of the muscle biopsy over the right rectus femoris muscle revealed an increased number of fibers with centrally placed nuclei, type 1 fiber predominance, type 1 fiber atrophy, and a peripheral halo in the sarcoplasm on NADH-TR staining. On electron microscopy, central nuclei were separated by strands of glycogen and mitochondria. His muscle strength showed clinical improvement at a 14-month follow-up. This case illustrates the need for a muscle biopsy and histochemical staining and/or electron microscopic investigation for a proper diagnosis in hypotonic newborns with respiratory distress.

Biopsy↗
PubMed1986

[Collagen proteins of human hyaline cartilage in normal states and in various bone dysplasias].

Using SDS electrophoresis and subsequent densitometry, isolated collagen proteins of infantile rib and knee joint hyaline cartilage were characterized. Both the normal samples and hyaline cartilages of children with osteochondrodysplasias were shown to contain collagens type I and II as well as collagen proteins with Mr 160 (A), 150 (B), 140 (C), 120 (D), 110 (E) and 39 kD (F), whose content in normal samples varied, depending on the donor age. An analysis of normal and pathological samples revealed the following biochemical markers of intensive chondrocyte proliferation: an increased content of collagen proteins A--F and a decreased number of intramolecular cross-links of collagen type II. Conversely, the increased number of intramolecular cross-links in collagen type II and the elevation of the relative content of collagen type I in lethal forms of osteochondrodysplasias and funnel chest may testify to chondrocyte dedifferentiation. It was assumed that collagen proteins D and E correspond to proteins 1 alpha and 2 alpha, whereas proteins A, B, C and F are the products of hydrolysis by pepsin type M of collagen detected previously only in animal cartilages. Mapping of collagen type II CNBr-peptides and electron microscopic analysis of its SLS-form were carried out. The experimental results are suggestive of the involvement of collagen proteins in the pathogenesis of human osteochondridysplasias as well as of the pronounced biochemical heterogeneity of the disease.

Cartilage↗
PubMed1989

[Late-infantile form galactosialidosis with psychomotor retardation and spastic paraparesis].

We described a case of late-infantile form of galactosialidosis. This male patient was a product of normal pregnancy. His parents were first cousins. He first sat at eight months, walked and talked at two years of age. His gait gradually became unsteady and he was diagnosed as spastic paraparesis at the age of five years. Abnormally slow learning was first pointed out at seven years of age. At the age of nine years, we evaluated him in detail at our university hospital. Physical examination revealed a short stature for his age, slightly coarse face, short neck, funnel chest, genu, pes and hallucis valgus. Corneal clouding, hernia and angiokeratoma were not found. Neurological examination showed mental retardation, bilateral optic atrophy without cherry-red spots, and spastic and slightly ataxic gait. Slight muscular atrophy with weakness was also seen in the extremities, more remarkable in the lower limbs. Deep tendon reflexes were hyperactive with bilateral ankle clonus and no extensor planter response. Routine examination of blood, urine and cerebrospinal fluid were normal except for approximately 10% lymphocytes containing cytoplasmic vacuoles. X-ray films of the backbone exhibited vertebral plana with anterior breaking at the second lumbar vertebra level. The electroencephalography showed the multiple spike and slow wave complexes. Brain CT depicted the atrophy of cerebellum. The activities of sialidase and beta-galactosidase were markedly reduced in white blood cells and cultured skin fibroblasts in this patient. His urinary excretion of sialyloligosaccharides increased.(ABSTRACT TRUNCATED AT 250 WORDS)

Carbohydrate Metabolism, Inborn Errors↗
PubMed1989

[Thoracic and lumbo-sacral spinal lipoma in an infant].

We reported a case of thoracic and lumbosacral spinal lipoma in an 8 month-old boy. He was born in asphyxia. Six months after birth, spastic paraparesis developed gradually at both lower extremities and secondary funnel chest due to shallow thoracic movement and scoliosis in the thoracic region was observed. MRI was then performed where tumor mass demonstrated by the high signals in both T1 and T2 in ages was confirmed in the thoracic and lumbo-sacral regions. Surgery was performed only for the thoracic lesion which was considered primary. The tumor in the Th3-4 level had developed subdurally, while the tumor in the Th5-10 extradurally. Only partial removal could be done for the subdural tumor because its boundary with the spinal cord was not clearly identified. Postoperative histological study revealed it as lipoma. During the following 6 months only slight recovery from paraparesis was observed. Surgical intervention against the mass in the lumbosacral region was not performed for the conus medullaris was found located in its normal position and no concomitant symptoms could be observed. In summary, it is considered that spinal lipoma is rare (1% of total spinal tumor) and commonly associated with other types of congenital anomalies (in 31% of spinal lipoma). Particularly in infants, spinal lipoma in the thoracic region as experienced in our case is extremely rare and any medical treatment started after clinical symptoms once developed seems ineffective.

Humans↗
PubMedDate not supplied

[Determination of the amino acid composition of cartilage and creatine phosphokinase isoenzymes with the use of phenylthiocarbamyl amino acid derivatives].

A method for estimation of amino acid composition and collagen-specific amino acids was developed. The assay was based on the precolumn reaction of amino acids with phenylisothiocyanate. The phenylthiocarbamyl derivatives were analyzed by means of reverse-phase chromatography on octadecyl sorbents, which involved gradient elution with ethanol and sodium or ammonium acetate. The method was used for effective separation of collagen-specific and main amino acids in cartilage hydrolysate from healthy persons and of patients with funnel chest and Ehlers-Danlos syndrome and also for determination of amino acid composition in creatine phosphokinase B- and M-subunits.

Amino Acids↗
PubMed1988

[Phenotypic characteristics of patients with the premature ventricular excitation syndrome].

Wolff-Parkinson-White syndrome (WPWS) was combined in a majority of patients with various syndromes of primary dysplasia of connective tissue determining phenotypic characteristics of patients. They are also of considerable diagnostic importance. During examination of 200 WPWS patients, asthenic constitution, dolichocephalism and arachnodactyly were revealed in most of them. The most frequent stigmata of dysembryogenesis were the high palate (76%) the 3rd type of the ear lobe (36.6%), and epicanthus (20.5%). The funnel chest and thoracic kyphosis in the sagittal plane were noted in 30% of WPWS patients. The syndrome of articular hypermobility was diagnosed in 51.6% of the patients with WPWS, of them 37% had extraarticular manifestations in the form of varicosis of the crural veins.

Adolescent↗
PubMed1979

[Pseudoxanthoma elasticum associated with Marfan syndrome (author's transl)].

We described a 26-year-old man whose brother has a mottled fundus. Many maternal relatives suffer from myopia and heart disease, and one cousin has arachnodactylia. The patient is very tall and shows various abnormalities such as arachnodactylia, highly arched palate, funnel chest and scoliosis. He also shows hyperextensibility of joints, inguinal hernia, dissecting aneurysm of ascending aorta, dilatation of aortic ring, aortic and mitral insufficiency, myopia and striae distensae. These findings are that of Marfan's syndrome. At the same time, we noticed yellowish papules on the neck, axillae, inguinal region and inner aspect of thighs. Brown patches were found around umbilicus. These skin lesions as well as angioid streaks of fundus are typical for pseudoxanthoma elasticum. This case should be an association by chance of these two genetic affections.

Adolescent↗
PubMed1982

[Echocardiographic manifestations of the heart in the Hunter syndrome: report of a case].

Cardiac involvement of mucopolysaccharidosis has not been well characterized by echocardiography. In this paper, we reported a case of Hunter syndrome with special reference to the noninvasive diagnosis of cardiac anomalies. A 21-year-old male of Hunter syndrome was referred to our noninvasive laboratory for the evaluation of his heart murmurs. He was strikingly dwarfed, 115 cm in height and 28 kg in weight, and had apparently Gargoyle-like facial appearance. Physical examination disclosed a mild funnel chest and a loud systolic murmur. Blood pressure was 98/56 mmHg and regular pulse rate was 100/min. The chest X-ray film revealed a shift of the heart to the left with a prominent pulmonary artery segment. There were no signs of pulmonary congestion. The electrocardiogram demonstrated right axis deviation, clockwise rotation and left atrial overload. In phonocardiograms, a basal ejection and an apical scratchy systolic murmurs were recorded. The latter was associated with a presystolic murmur and a loud first heart sound. A loud pulmonary second heart sound was also present. Outstanding findings were observed in the two-dimensional and M-mode echocardiograms, which showed remarkable thickening of both mitral valve leaflets with reduced opening. There was also generalized thickening of tricuspid and aortic valves, and endocardium of the free ventricular wall. Two leaflets of the tricuspid valve were visualized to prolapse, but the aortic valve motion appeared intact. In addition, echocardiograms revealed the dilatation of right-sided cardiac chambers and pulmonary artery, but the size of the left ventricle was rather small. Pulsed Doppler echocardiography demonstrated systolic turbulence in the right atrium in the vicinity of the tricuspid valve orifice. Stenotic turbulence was also recorded in the inflow tract of the left ventricle during diastole. Thus, the final diagnosis of predominant mitral stenosis associated with tricuspid valve prolapse and pulmonary hypertension was obtained. In conclusion, cardiac involvements in Hunter syndrome were precisely evaluated by noninvasive methods. Hunter syndrome may be considered as one of the etiologies producing mitral stenosis.

Adult↗
PubMed1982

[A rare variety of polyendocrine neoplasms: the MEN IIb and MEN III syndrome].

The MEN IIb syndrome is a rare form of multiple endocrine neoplasia, clearly defined more than 15 years ago, since which time more than 100 cases have been identified. It has a characteristic phenotype appearance which is unique and should permit more frequent diagnosis. The patient who is the subject of this study had passed through several different hospital departments without his very characteristic appearance being recognized or a diagnosis established. The marfanoid aspect of such patient is however very obvious, with kyphosis, skeletal asymmetry and funnel chest. The facial appearance of blunt features and thick lips is even more specific. The tongue and digestive mucosa are covered with small polypoid lesions which are submucosal ganglioneuromas. The visible presence of fine hyperplastic nerve fibres on the cornea is pathognomonic. This syndrome occurs sporadically but is generally transmitted genetically in an autosomal dominant manner. A medullary thyroid carcinoma, followed or preceded by pheochromocytoma (often bilateral), is associated with these dysmorphic signs. The tumours are themselves preceded by C-cell hyperplasia or adrenal medullary hyperplasia. The ganglioneuromas which predominate in the digestive tract exist from birth. The accompanying symptoms may, initially, be mistaken for inflammatory bowel disease. The prognosis is poor, since it relates to the evolution of the medullary thyroid carcinoma which is particularly malignant and presents at an early age. We have been following the course of this unusual disease of the APUD system in a young man, now aged 26 years, for over 2 years.

Adrenal Gland Neoplasms↗
PubMed1980

Spinal deformities in Marfan's syndrome.

Marfan's syndrome is an hereditary disorder of the connective tissue which in its most classic form includes cardiovascular, ocular and skeletal manifestaions. Scoliosis is frequently present (40-75 per cent); the type of curve is similar to that seen in idiopathic scoliosis, but progression is often much more severe. One of our patients, a woman aged thirty-two who had never been treated, had two 180 degree curves. There is a high incidence (50 per cent) of double curves (right thoracic and left lumbar) and a 23 per cent incidence of triple curves. Vertebral inversion (thoracic lordoscoliosis) is very common and often accompanied by severe respiratory insufficiency, particularly if it is associated with funnel chest. Conservative treatment is almost invariably ineffective and should be reserved only for very slight curves. All curves of 50 degrees or more should be surgically corrected. A 40-50 per cent correction can be achieved without risk. In view of the high incidence of pseudarthrosis, systematic review and, if necessary, revision of the arthrodesis is to be recommended. In the more severe cases of kyphosis it is advisable also to perform an anterior arthrodesis. Surgery is contraindicated in the presence of severe mitral or aortic insufficiency or aortic aneurysm.

Adolescent↗
PubMedDate not supplied

Hypophosphatasia in a newborn infant.

Infantile type hypophosphatasia, an autosomal recessive disease with severe clinical manifestations, is characterized biochemically by subnormal activities of circulating alkaline phosphatase. In this report, we presented a five-day-old male with this rare disorder. His parents were first cousins, and he was first seen for jaundice. He had soft calvaria, large fontanel, extremely wide cranial sutures, low-set ears, a depressed nasal bridge, funnel chest, and short and bowed distal limbs. Roentgenographic studies showed widened sutures and poor ossification of the skull, bowing of the femora and slight modeling defects in the long bones. A low serum alkaline phosphatase activity led us to measure excretion of phosphoethanolamine and found it to be increased.

Alkaline Phosphatase↗
PubMed1993

[A case of non-Fukuyama type congenital muscular dystrophy with progression in early adulthood, ocular involvement, and sensorineural deafness].

Congenital muscular dystrophy (CMD) is a concept applied to infants showing muscular weakness and hypotonia at birth, with myopathic changes which are histopathologically similar to those of muscular dystrophy. Patients with Fukuyama-type CMD (FCMD), characterized by progressive muscular dystrophy, mental retardation and occasionally, convulsions, are more frequently seen in Japan than those with non-Fukuyama type CMD (NFCMD). FCMD has been regarded as a distinct clinical and pathological entity, although the nosologic status of CMD is still controversial. A 24-year-old man had exhibited hypotonia and weakness at birth and delay in early development. During childhood, his muscular weakness improved, and he rode a bicycle and enjoyed skiing. However, his strength began to deteriorate at the age of 19 years. Neurological examination on admission revealed prominent muscular wasting and weakness, predominantly in the proximal limbs. He had ocular involvement (corneal opacity and slow saccades), sensorineural deafness, and a high-arched palate, saddle nose and funnel chest as anomalous conditions. Serum CK was moderately elevated and EMG showed myogenic patterns. A muscle biopsy specimen of the left biceps brachii was dystrophic, showing increased variation in fiber size with fibrous tissue proliferation, an increased number of centralized nuclei, fiber splitting and degenerating/regenerating fibers. Those findings were compatible with those seen in NFCMD. In Japan, only one patient with NFCMD who was followed to adulthood has been reported. This patient's symptoms progressed very slowly. The present patient's course of illness was stable during childhood but progressive in early adulthood. It suggests heterogeneous clinical expression of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1995

Swyer-James syndrome associated with Noonan syndrome: report of a case.

A 28-year-old man with Noonan syndrome associated with unilateral hyperlucent lung is reported. He had the typical craniofacial appearance and short stature of Noonan syndrome; he had mild mental retardation, atrophic testis, mild funnel chest and kyphosis. cardiovascular abnormalities included asymmetric hypertrophic cardiomyopathy and a significantly different caliber of the left and right pulmonary arteries. The unilateral hyperlucent lung was shown to result from acquired nondestructive emphysema caused by nonvalvular obstruction of the bronchi (Swyer-James syndrome or Macleod's syndrome). To the authors' knowledge, this is the first reported case of Noonan syndrome associated with Swyer-James syndrome.

Adult↗
PubMed1996

X-linked recessive myotubular myopathy proven by muscle biopsy.

We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress. On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.

Biopsy↗