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At least 703 records · Page 39Linked to original sources
PubMed2002

Triple heterozygosity of a hemoglobin variant: hemoglobin Pyrgos with other hemoglobinopathies.

This article is the first report of hemoglobin (Hb) Pyrgos along with other Hbs forming triple-heterozvgous patterns. Of 2 cases, the first occurred in a Thai girl with thalassemic facies, marked anemia, and hepatosplenomegaly, who had Hb Pyrgos in association with Hb H disease with Hb Constant Spring (CS). This case represents a triple heterozygosity comprising Hb Pyrgos, alpha-thalassemia 1, and Hb CS. Hb electrophoresis revealed an abnormal Hb in addition to Hbs CS, A2, A, Bart's, and H. This abnormal Hb moved slightly faster than Hb A but more slowly than Hb Bart's. Polymerase chain reaction revealed that the abnormal Hb was caused by a missense mutation within codon 83 of the beta-globin gene (GGC to GAC) resulting in a glycine-to-aspartic acid substitution, which corresponds to Hb Pyrgos. The patient required blood transfusions by the age of 3 years. A splenectomy was performed when she was 5 years old, after which her hematocrit level remained above 32%. The second case was the patient's older sister who was also triple heterozygous (Hb Pyrgos, E, and CS) but was healthy.

Alleles↗
PubMed1998

Anaesthesia in a parturient with Noonan's syndrome.

PURPOSE: To report the management of labour analgesia and subsequent anaesthesia for postpartum bleeding in a 19-yr-old parturient with Noonan's syndrome. CLINICAL FEATURES: The patient presented in active labour at 36-wk gestation. She was known to have Noonan's syndrome and had been assessed regularly throughout pregnancy. Features of the syndrome exhibited by the patient included typical facies, chest skeletal abnormalities, pulmonary valve dysplasia, mental retardation and lymphoedema. In addition, she had Factor XI deficiency (0.46 mg.L-1) and thrombocytopenia (92 x 10(9).L-1), previously unreported in a parturient with this syndrome. Although epidural analgesia may have been considered the labour analgesic technique of choice, the risk of epidural haematoma caused by her bleeding diathesis made this unacceptable. This risk was balanced against the possibility of a potentially difficult intubation due to facial abnormalities, should emergency operative delivery become necessary. Labour analgesia was provided with intravenous patient controlled opioid analgesia (fentanyl 25 micrograms bolus, five minute lockout) despite her mental retardation. Dilatation and curettage required general anaesthesia after intubation with awake direct laryngoscopy using cautious sedation. CONCLUSION: Noonan's syndrome is characterised by multi-system involvement, requiring thorough preoperative assessment of cardiovascular, skeletal, haematological and central nervous systems. Clotting and platelet defects considerably restrict the possible analgesic and anaesthetic options for labouring patients with this syndrome.

Adult↗
PubMed1998

Anaesthetic management of a patient with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis.

PURPOSE: A case of a patient associated with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis is presented. CLINICAL FEATURES: Williams syndrome is a rare disease associated with a characteristic facies, supravalvular aortic stenosis, and mental retardation. A 15-yr-old girl with Williams syndrome underwent aortoplasty for supravalvular aortic stenosis. Anaesthesia was induced with fentanyl and thiamylal, and maintained with nitrous oxide, oxygen, sevoflurane, and continuous intravenous infusion of fentanyl. Supravalvular aortic stenosis was evaluated using a multiplane transesophageal echocardiography (TEE) probe before and after repair. CONCLUSION: Multiplane TEE was found to be very useful for anaesthetic management in a patient with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis.

Adolescent↗
PubMed2005

Anesthetic management of children with Moebius sequence.

BACKGROUND: Moebius sequence is a rare congenital absence of the sixth and seventh cranial nerves, although there may be additional congenital cranial neuropathies. Developmental delay, cardiac and musculoskeletal abnormalities may also co-exist. Oro-facial manifestations include bilateral facial nerve palsy resulting in a mask like facies, drooling, incomplete eye closure, and strabismus secondary to the extra-ocular muscle imbalance. This condition has multiple implications for anesthetic care. METHODS: We reviewed 111 anesthesia records of 46 patients with Moebius sequence for anesthesia technique and related complications. RESULTS: Facial nerve palsy was universally present and bilateral in 44 (93.6%) patients. Thirty-two (68%) had concomitant sixth nerve palsy. Oro-facial and limb abnormalities were present in 16 (35%) and 18 (39%) of patients respectively. Endotracheal intubation, when attempted, was easy in 76 of 106 cases. Tracheal intubation was consistently difficult in seven patients and intubation failure occurred in a single patient only. Statistically significant factors associated with difficult tracheal intubation included structural abnormalities of the mandible and palate and abnormalities of four cranial nerves (IX, X, XI, XII). CONCLUSION: We confirm that tracheal intubation may be difficult in patients with Moebius sequence. We identify disease features that might predict a difficult tracheal intubation and thus allow the anesthesiologist an opportunity to plan accordingly.

Abducens Nerve↗
PubMed1986

Aspiration pneumonia and coma--an unusual presentation of dystrophic myotonia.

A 30-year-old female patient presented in a comatose state with clinical and radiographic signs of aspiration pneumonia 16 hours following elective surgery. Subsequent clinical assessment and investigations revealed the characteristic facies, proximal muscle weakness, lenticular opacities, pulmonary function defects, arterial desaturation and abnormal breathing during rapid eye movement (REM) sleep often associated with myotonia dystrophica. Although these characteristic features were evident on clinical examination postoperatively they were not noted in the preoperative assessment. The aspiration pneumonia and coma were unusual presenting features of this disease. Unsuspected myotonia dystrophica should be considered in the differential diagnosis of unexplained respiratory depression, aspiration or comatose state following surgery. Recognition of the disorder during the preoperative assessment is the key to avoiding complications during the perioperative management of such patients.

Adult↗
PubMed1998

Assessing the validity of intercensal comparisons of indigenous Australians, 1986-96.

"The credibility of analysis of 1996 Census data on indigenous Australians hinges on who the people are who have changed their indigenous identification between the last two censuses. The number of people who identify as indigenous in either the Post-Enumeration Survey or the census is more stable than the prima facie evidence indicates. Also, the continuing low levels of education among the indigenous population means that self-identification signifies that one is, more than likely, disadvantaged. While it is difficult to say with absolute certainty that census statistics accurately reflect the economic status of the indigenous population, they are sufficiently credible to be taken at face value."

Australia↗
PubMed1999

Symptomatic hypercalcemia in the first months of life: calcium-regulating hormones and treatment.

Neonatal hypercalcemia is a rare condition often of unclear pathogenesis. If unrecognized and untreated it may result in central nervous system and renal damage. We studied three infants with symptomatic neonatal hypercalcemia pointing out pathogenetic and therapeutic aspects. One infant was found to have transient hyperparathyroidism with high intact parathyroid hormone (iPTH) levels. One infant had an incomplete form of Williams syndrome with hypercalcemia and an elfin facies. The pathogenesis is unclear in this case. A reduced secretion of calcitonin or an hypersensitivity to vitamin D might be the underlying defect. The third case was found to have subcutaneous fat necrosis and hypercalcemia associated with high 1,25(OH)2D levels and suppressed iPTH levels. These findings suggest an unregulated extrarenal 1,25(OH)2D production. These infants were treated with hydratation, furosemide, corticosteroids and low calcium diet. Symptomatic neonatal hypercalcemia should be treated promptly. However blood has to be taken before starting treatment to study calcium-regulating hormones and clarify pathogenesis.

Adrenal Cortex Hormones↗
PubMed2002

[Ethics in clinical routine care: example of prognosis information].

OBJECTIVES: The article discusses from an ethical point of view the question whether a physician should tell the patient the whole truth about a poor prognosis. From a legal viewpoint, the therapeutic privilege gives physicians in most countries the right to limit information, if they are concerned that this information will severely harm the patient. METHODS AND RESULTS: An overview about empirical studies, especially surveys of physicians and patients, shows that most patients always wish to know their prognosis, while physicians would less often tell the whole truth. Physicians explain their attitudes by referring to the ethical principles of nonmaleficience and beneficience. These principles are apparently in conflict with the principles of veracity and respect of patient autonomy. However, it can be shown that this conflict does not persist when empirical data about consequences of truthful information are considered: telling the truth seems not to have negative, but rather positive consequences on the overall well-being of the patient. After having summarized the empirical studies that have examined the consequences of truthful information about severe and incurable diseases, the article argues for always telling patients the truth if they want to know it. CONCLUSION: Many conflicts in medical ethics are between prima facie principles. In cases where the principles of beneficience and nonmaleficience are used in the argumentation, some of the conflicts can be eliminated when the ethical judgment is made on a thorough empirical basis, as shown by the example of truth-telling about prognosis.

Colonic Neoplasms↗
PubMed2006

[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].

Albright hereditary osteodystrophy (AHO) is characterized by a symptom complex including short stature, brachymetacarpia, obesity, round facies, cutaneous osteomas, and mental retardation. AHO is caused by mutations in the GNAS-gene localized on chromosome 20 encoding for Gsalpha protein, a signal transducer of endocrine pathways. Therefore, AHO is often associated with endocrinopathy such as pseudohypoparathyroidism or hypothyroidism. A nine-month-old boy presented with typical features of this syndrome. The diagnosis was confirmed by biochemical and molecular analyses. An unusual feature was calcinosis cutis at such an early age, which led to extensive differential diagnostic procedures.

Calcinosis↗
PubMed1994

[Pili torti et canaliculi in ectodermal dysplasia].

Uncombable hair is a heterogeneous symptom with a partially genetic background. In order to make an exact diagnosis, it is mandatory to recognize associated abnormalities, do pedigree analyses, and perform scanning electron microscopic studies of the hair. In a case of ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome and in a patient with familial tricho-odonto-onychial ectodermal dysplasia with syndactyly, scanning electron microscopy demonstrated pili torti et canaliculi, helicotrichia and cuticular dystrophy. Congenital pili torti et canaliculi must be differentiated from pili torti and from pili trianguli et canaliculi ("cheveux incoiffables"), inasmuch as they may present in hypotrichosis congenita hereditaria of Marie-Unna or as part of complex ectodermal dysplasia syndromes with clefting of the lip/palate and/or limb defects. It is noteworthy that some of those patients show a dysmorphic facies and an atopic constitution in addition to the aforementioned abnormalities. We discuss the possible relationship of these syndromes to each other, with special respect to the Hay-Wells or ankyloblepharon, ectodermal dysplasia, cleft lip/palate (AEC) and the Rapp-Hodgkin (ectodermal dysplasia, midfacial hypoplasia, cleft lip/palate) syndromes.

Abnormalities, Multiple↗
PubMed1998

[Anatomy of the labro-capsular complex].

The acetabular labrum appears as a bundle of distinctly circular lined up collagenous fibers. It surrounds the limbus tangentially and is separated from the cartilagenous covered facies lunata through a thin gap (fissure) except of a small zone in the craniocaudal part. The labrum is strongly fixed with the transverse acetabular ligament. A vascular anastomotic ring surrounds the capsular attachment. It derives its blood supply especially from the superior gluteal vessels, the obturator artery and one ascending branch of the medial femoral circumflex artery. The innervation of the acetabular labrum is coming from a branch of the nerve to the quadratus femoris muscle and from the obturator nerve. There are all types of mechanoreceptors in the labrum. The acetabular labrum is able to exert a high tensional force on the rim of the acetabulum. This plays a very important role in view of the physiological, load depending incongruity of the articulating parts of the hip-joint.

Acetabulum↗
PubMedDate not supplied

Chromosome 22q11 deletions in patients with conotruncal heart defects.

We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus arteriosus (TA; n = 4), subpulmonary ventricular septal defect (SPVSD; n = 3), and interrupted aortic arch (IAA; n = 1), were enrolled in this study and screened for 22q11 deletions by the fluorescence in situ hybridization technique. Phenotypic features and associated abnormalities, including submucosal cleft palate, abnormal facies, square nose, nasal voice, abnormal ears, long and slender fingers, delayed development, mental retardation, delayed growth, short stature, and hypocalcemia, were examined in these patients. Nine of 61 patients (14.8%) had 22q11 deletions, including 100% of IAA, 50% of TA, 33.3% of SPVSD, 33.3% of PAVSD, and 3.1% of TOF. Deletions were not detected in DORV and TGA. In all patients with 22q11 deletions, > or =1 phenotypic features or associated abnormalities were observed. A subgroup of patients with IAA, TA, SPVSD, and PAVSD associated with phenotypic features or abnormalities warrants evaluation for the presence of 22q11 deletions.

Abnormalities, Multiple↗
PubMed2006

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome.

Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic "cylindrical-shape" thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder.

Abnormalities, Multiple↗
PubMed1998

Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist.

Three unusual dental anomalies are presented which should be of interest to the pediatric radiologist: otodental syndrome - an autosomal dominant syndrome of bizarre, greatly enlarged teeth with bulbous crowns (globodontia) that spares the incisors, in combination with sensorineural hearing loss; oculo-facio-cardio-dental syndrome - an X-linked dominant syndrome that is lethal in males, characterized by congenital cataracts, unusual facies, atrial septal defect (ASD), ventricular septal defect (VSD), and canine teeth that cease to grow only when they cut off their own blood supply by growing through the orbit and lower border of mandible; and lobodontia - a dominant disorder characterized by teeth whose crowns resemble those of a wolf.

Abnormalities, Multiple↗
PubMed1999

Ischio-vertebral dysplasia: a distinct entity.

BACKGROUND: Kyphoscoliosis is a complication of some bone dysplasias, including cleidocranial dysplasia. OBJECTIVES: We report a distinct disorder with defective ossification of the ischial rami, severe kyphoscoliosis and normal clavicles. Early recognition of this syndrome allows prevention of complications. MATERIALS AND METHODS: All patient cases (aged 1 day to 33 years) were selected according to the above criteria, with special attention to radiological findings, family history and follow-up (5-30 years). RESULTS: In all eight patients, we observed the following: (a) Severe thoracic scoliosis of early onset and rapid progression, leading to rotatory dislocation. Spinal cord compression occurred in four cases with respiratory problems related to chest deformity. (b) Bilateral and symmetrical incomplete ossification of the ischial rami. (c) Peculiar facies with retrognathia. (d) Normal clavicles. Three patients were from the same family (grandmother, mother and daughter). CONCLUSION: Ischio-vertebral dysplasia seems to represent a true entity, with radiological and genetic findings that make it distinct from cleidocranial dysostosis. The association of kyphoscoliosis and these pelvic abnormalities is specific for this condition. Neurological and respiratory complications can be avoided if the condition is recognised early and early treatment is instituted.

Abnormalities, Multiple↗
PubMed1999

[Restrictive dermopathy].

Restrictive dermopathy is a rare, fatal, autosomal recessive, congenital skin disease. Rigidity of translucent thin skin, which is thus highly vulnerable and tears, spontaneously causes intra-uterine fetal akinesia or hypokinesia deformation sequence (FADS), characteristic dysmorphic facies with fixed open mouth in O position, and generalized joint contractures (arthrogryposis). Polyhydramnios and pulmonary hypoplasia are distinctive manifestations, leading to respiratory insufficiency and premature delivery at about 31 weeks of gestation. We report on a case of a prematurely born infant who presented with the typical morphological features and describe the light- and electron-microscopical findings as described in the literature.

Abnormalities, Multiple↗
PubMed2005

A case of Takayasu disease with findings of incomplete Alagille syndrome.

A 16-year-old girl being followed up for Takayasu arteritis for the last 3 years was also found to have Alagille syndrome upon findings of atypical facies, posterior embryotoxon, high-pitched voice, osteopenia and hypogonadism. This case might imply a possible relationship between Takayasu arteritis and Alagille syndrome.

Adolescent↗
PubMed1997

Syndrome of Alagille: radiological and sonographic findings. A review of 37 cases.

The objective of this study was to evaluate the association of intrahepatic cholestasis, pulmonary stenosis, and hyperlipemia with osseous and renal abnormalities in Alagille's syndrome. A total of 37 patients (25 males and 12 females) with ages ranging between 8 months and 27 years were included. Clinical records as well as radiological and ultrasonographic studies were reviewed. Chronic cholestasis was observed in all patients. Thirteen had favorable clinical outcome and normal hepatic sonograms. Clinical and sonographic evidence of portal hypertension was found in 13 patients and of cirrhosis in 8 patients. The remaining 3 patients required hepatic transplantation due to severe cholestasis. Hyperlipemia correlated with hepatic malfunction. Pulmonary stenosis and renal hypoplasia were the most frequently associated abnormalities. All patients showed a peculiar facies. Abnormal "butterfly" vertebrae were present in 18 patients and ulnar or phalangeal shortening in 11 patients. Ultrasonography allowed hepatobiliary disease assessment and helped to establish indications for hepatic transplantation. Renal and osseous abnormalities were not specific but in the appropriate clinical setting reinforced the diagnosis.

Adolescent↗