Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, and mutations in the TCOF1 gene are responsible for over 90% of TCS cases. The knowledge about the molecular mechanisms responsible for this syndrome is relatively scant, probably due to the difficulty of reproducing the pathology in experimental ...

Gamma-hydroxybutyrate (GHB) has been used as a recreational drug since the 1990s and over the last few years there has been increasing use of its analogues gamma-butyrolactone (GBL) and to a lesser extent 1,4-butanediol (1,4BD). This review will summarize the literature on the pharmacology of these compounds; the patterns and ...

Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder among premenopausal women. In addition to infertility, PCOS is associated with insulin resistance, features of the metabolic syndrome, and an increased risk for diabetes. Similar to individuals with metabolic syndrome, many women with PCOS manifest abdominal obesity, suggesting adipose ...

Sjögren’s syndrome (SS) is a chronic, progressive autoimmune disease primarily affecting women. Diagnosis of SS requires an invasive salivary gland tissue biopsy and a long delay from the start of the symptoms to final diagnosis has been frequently observed. In this study,we aim to identify salivary autoantibody biomarkers for primary ...

This review summarizes the recent advances on pathogenesis of antibody-mediated disorders of the neuromuscular junction, and results of studies on clinical assessment and treatments. The incidence of myasthenia gravis, particularly in patients older than 50 years, is rising, and this is not solely due to improved disease recognition. It is ...

Histological, morphometric, and immunohistochemical analysis showed that the specific features of epidermal barrier structure in patients with undifferentiated connective tissue dysplasia syndrome are increases number of keratinocyte rows in the basal and prickly layer as a result of their higher mitotic activity, increased numerical density of Langerhans cells, and suppression ...

A 2-month-old infant presented with an enlarging scalp hemangioma and consumptive coagulopathy. The patient became severely thrombocytopenic despite medical treatment. Transarterial embolization with Onyx was performed with significant reduction in the size of the tumor and complete resolution of the thrombocytopenia within 12 hours. Onyx embolization appears to be an ...

We describe a rare case of autoimmune polyglandular syndrome type 2 initially presenting as Addison disease and autoimmune thyroid disease, with subsequent development of autoimmune hepatitis and myasthenia gravis (MG) crisis in a Japanese woman. MG improved with oral prednisolone followed by plasmapheresis for immunoadsorption; thymectomy was not performed. Conventional ...

Severe meconium aspiration syndrome is difficult to manage and has a high mortality in developing countries. Guidelines are available for the initial management. If the infant has been born through particulate meconium and is not vigorous, an inspection of the vocal cords by laryngoscopy is recommended. If meconium is seen ...

BACKGROUND: Meconium-stained amniotic fluid is a common occurrence which places the mother at risk of escalating obstetric interventions, and the baby at risk of meconium aspiration syndrome. METHODS: The Cochrane Library was searched for interventions related to care before delivery with useful evidence on the outcomes 'meconium-stained amniotic fluid' and ...

One in every 7 pregnancies ends with meconium-stained amniotic fluid and approximately 5% of these infants develop the meconium aspiration syndrome (MAS). MAS is a severe disease of the (mainly) term neonate, characterized by respiratory distress, pulmonary inflammation, persistent pulmonary hypertension and chronic hypoxia. The pathophysiology of MAS is multifactorial ...

Meconium aspiration syndrome (MAS) is associated with increased risk for perinatal mortality and morbidities. To provide an overview of the advances in our knowledge concerning the obstetric approaches to the prevention of MAS. The evidence of the effectiveness of intrapartum surveillance, amnioinfusion, and delivery room management in the prevention of ...

The relationship between myasthenia gravis and thymic pathology, including thymoma, is well known. Approximately 10% to 15% of patients who have myasthenia gravis are observed to have a thymoma. Myasthenia gravis may be considered as the most common of the paraneoplastic syndromes in patients who have thymoma. This article summarizes ...

A 14 year old boy with atypical myasthenia gravis is reported. The interesting features of the case were the onset in first decade with progressive weakness of limb muscles simulating limb girdle myopathy, presence of bilateral symmetrical non fluctuating external ophthalmoplegia with ptosis and the absence of diplopia. Differential response ...

OBJECTIVES: Various inflammatory cytokines and chemokines are thought to be associated with the pathophysiology of meconium aspiration syndrome. To clarify any such association, we compared various serum cytokine and chemokine profiles in patients with and without meconium aspiration syndrome. PATIENTS AND METHODS: Using a highly sensitive fluorescence microsphere method, 17 ...

A 79-year-old man with previous bulbar poliomyelitis developed dysphagia and was diagnosed as having post-polio syndrome. Over 2 years, his swallowing deteriorated and he suffered an aspiration pneumonia. Only after the subsequent development of fatigue and facial weakness was myasthenia gravis diagnosed. Diagnostic criteria for post-polio syndrome include the exclusion ...

Association of stiff person syndrome, an immune related disorder of anterior horn cells and myasthenia gravis an endplate disorder with similar pathogenesis, is rare. This communication documents this association in the Indian literature for the first time.

OBJECTIVE: To estimate the prevalence of meconium-stained amniotic fluid and meconium aspiration syndrome, as well as the differences in case fatality from meconium aspiration syndrome, between non-Hispanic black and non-Hispanic white infants. METHODS: We studied non-Hispanic black and non-Hispanic white live births with weights greater than 2.5 kg and gestational ...

Acid aspiration syndrome still contributes to the few anaesthesia-related deaths in caesarean section. Although none of the numerous measures intended to prevent such fatalities is based on clear evidence, many different regimens are being used. As obstetric acid aspiration syndrome occurs mainly in general anaesthesia, using regional techniques wherever possible ...

Over the past 5 years, increasing understanding about the pathophysiology of meconium-stained amniotic fluid (MSAF) and the meconium aspiration syndrome (MAS) has occurred. Many new therapies are being used in an attempt to prevent MAS and to treat the disorder. The authors review the current status of knowledge concerning the ...

Marfan syndrome (MFS) is one of the most common inherited connective tissue disorders that severely affects the cardiovascular system. Mutations in the gene encoding fibrillin-1 (FBN1) have been shown to cause MFS as well as dominant ectopia lentis and neonatal Marfan syndrome. Fibrillin-1 is the major component of elastic fiber ...

We report the first case of stiff-persons' (-man) syndrome in the setting of a histologically proven thymoma. Muscular hyperactivity was abolished under general anesthesia and the symptoms of stiffness resolved after thymectomy and three courses of intravenous immunoglobulins. After thymectomy, the patient developed ocular myasthenia gravis which later resolved spontaneously. ...

A 22-year-old woman had right unilateral proptosis. Evaluation revealed a large intraconal orbital mass, consistent with cavernous hemangioma. The mass was removed via a lateral orbitotomy. Histopathology, confirmed by electron microscopy, demonstrated fibroblasts with inflammatory histiocytes, but there was no evidence of cavernous hemangioma. To our knowledge, this is the ...

We describe a child with features of the Beckwith-Wiedemann syndrome with congenital recurrent digital fibroma of infancy that extended into and replaced the marrow of the terminal phalynx of the little finger. Digital fibromas of infancy have not previously been associated with either Beckwith-Wiedemann syndrome or invasion into underlying bone.

Plagiocephaly is the term loosely applied to frontal or posterior cranial asymmetry. Deformational plagiocephaly is the most common form. Synostotic frontal plagiocephaly is usually sporadic, but can be syndromic or familial. These two major categories of plagiocephaly are distinguishable by physical findings. Deformational plagiocephaly tends to self-correct during infancy; this ...

OBJECTIVE: Our purpose was to determine whether perinatal asphyxia or meconium aspiration, or both, can produce the physiologic and histologic pulmonary vascular changes associated with the meconium aspiration syndrome. STUDY DESIGN: Twenty neonatal baboons were studied in four groups: 1, control; 2, meconium aspiration; 3, asphyxia (intermittent cord compression); and ...

A term infant with the meconium aspiration syndrome (MAS) is described. He had the typical clinical course of the disease despite appearing well nourished, and with good Apgar scores. At 5 months of age, he continued to do well with no sequelae. The reason for the initial passage of meconium ...

Myasthenia gravis and Lambert-Eaton myasthenic syndrome are causes of acquired extraocular muscle weakness and ptosis. Exacerbation of ptosis after sustained upgaze is a clinically useful sign in the diagnosis of myasthenia gravis. A 54-year-old woman with established Lambert-Eaton myasthenic syndrome exhibited transient improvement of her ptosis after sustained upgaze. We ...

We report a case of a 47-year-old woman with rheumatoid arthritis who developed ocular myasthenia gravis during penicillamine treatment. Her serum contained elevated titers of acetylcholine receptor antibodies, and her symptoms resolved 8 weeks after discontinuation of penicillamine. We review the clinical and laboratory features of this syndrome of penicillamine-induced ...

To identify the fetus and newborn at risk for meconium aspiration syndrome the perinatal characteristics of 238 infants delivered through meconium-stained amniotic fluid were prospectively examined. All infants with meconium-stained amniotic fluid were routinely suctioned with a DeLee apparatus before tracheal intubation and suctioning. The type and presence of meconium ...

To perform extracapsular cataract extraction safely the surgeon must know the orientation of the aspiration port of the irrigation/aspiration handpiece at all times. I have modified a commercially available irrigation/aspiration handpiece to allow visual and tactile orientation of the aspiration port even when it is obscured by iris, blood, or ...

The anaesthetic management of a patient suffering from carcinoid syndrome and myasthenia gravis is described including the successful treatment of a carcinoid attack with intravenous aprotonin. The differences between myasthenia gravis and the myasthenic (Eaton-Lambert) syndrome are considered and the rationale for the choice of vecuronium as the muscle relaxant ...

Sixty-four patients who had been admitted to hospital in the Gambia with acute lobar pneumonia were investigated. Lung aspiration proved to be the most effective method of establishing a bacterial etiology, and Streptococcus pneumoniae was the pathogen isolated most frequently from patients irrespective of age. Among children, Haemophilus influenzae, either ...

A combined obstetric-pediatric approach to tracheal toilet is said to prevent serious cases of the potentially fatal meconium aspiration syndrome. After delivery of the head a DeLee trap is used to suction the oropharynx and nasopharynx. Immediately following delivery, endotracheal suction is performed in an effort to remove any remaining ...

Meconium diseases in infancy cannot be neatly separated into discrete categories of meconium plug syndrome, meconium ileus, and meconium peritonitis; nor can the therapy of each condition. A patient with any of the three may or may not have cystic fibrosis. All babies with any form of meconium obstruction or ...

Septic shock is a dynamic syndrome of inadequate tissue perfusion caused by invasion of the blood by micro-organisms. Gram-negative rod bacteremia accounts for about two-thirds of patients with this syndrome. The fully developed syndrome of high fever, chills, cold, moist extremities, hypotension and oliguria is easy to recognize. However, the ...

Forty cases of hemangioma in black Nigerians are presented. Twenty-eight patients were female and 20 male. Of these cases 43.8 percent were discovered at birth and 77 percent were located in the head and neck areas. Forty-eight percent of the lesions were of the cavernous type and 29 percent of ...

A man of 23 years was affected by myasthenia with amyotrophic patterns. From the neurophysiological viewpoint, there were typical electrophysiological aspects of myasthenia gravis and the Eaton-Lambert syndrome simultaneously. In some instances the various electrophysiological tests were preceeded by the administration of Tensilon, calcium gluconate and sodium benzoate caffeine. It ...

Meconium aspiration syndrome is a perinatal problem which requires the full cooperation and coordination of obstetrical and pediatric personnel if it is to be avoided. Prompt, efficient delivery room management can minimize the sequelae of aspirated meconium. However, those infants who develop severe meconium aspiration syndrome are best managed in ...

In a 50-year-old man with hyperthyroidism and myasthenic weakness electrophysiologic phenomena similar to Eaton-Lambert syndrome were seen in classical myasthenia gravis. The orbicularis oculi showed an abnormally small muscle action potential in response to nerve stimulus and unusual facilitation of the response with activity. These signs are compatible with Eaton-Lambert ...

A study of curare sensitivity has been made in ocular myasthenia, myasthenia gravis, and the myasthenic syndrome sometimes associated with carcinoma, using a regional technique. Sensitivity is greater than in normal subjects. The injection of 0-125 mg d-tubocurarine resulted in a neuromuscular transmission block in all but a few of ...

The results of routine bacterial and viral studies on 483 patients with whooping cough, investigated at one hospital over a five year period are presented. The possible role of respiratory viruses in the aetiology of the disease is discussed.

Spontaneous clearing of bacteriuria occurred in three infants during the neonatal and early infancy period. In all cases, the presence of bacteria was confirmed by bladder puncture, no signs of clinical infection were present, and no treatment was given. The same host defence mechanisms as exist in adults were probably ...

Three cases of pulmonary aspiration of gastric acid as a complication of obstetrical anesthesia are described. The clinical picture consists of dyspnea, cyanosis, tachycardia and shock appearing several hours after the aspiration has occurred. On examination, the chest may be quite clear, but the chest radiograph shows a picture indistinguishable ...

A mass of inspissated meconium in the distal colon or rectum is a relatively common cause of neonatal intestinal obstruction. The meconium-plug syndrome is unrelated to cystic fibrosis and meconium ileus. The clinical picture is frequently indistinguishable, without contrast study of the colon, from other forms of mechanical intestinal obstruction ...