microstomia/aptaukošanās

Saite tiek saglabāta starpliktuvē

RakstiKlīniskie pētījumiPatenti

Izvēlieties kārtošanas veidu

12 rezultātiem

Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

We describe two brothers born to consanguineous parents, who presented with hypotonia and hypoglycaemia in the neonatal period and later developed obesity and developmental delay. They had brachydactyly and similar facial features including a prominent forehead, low nasal bridge, midface hypoplasia,

Syndromal obesity due to paternal duplication 6(q24.3-q27).

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23-24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23-qter) was detected. We present the case of a

[Application of air-Q laryngeal airway and gum elastic bougie in a case of anticipated difficult. Mask ventilation and tracheal intubation in a man with morbid obesity].

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

A 46-year-old man was diagnosed with descending colon cancer and was planned to undergo left hemicolectomy under general anesthesia. His body mass index was 42.6 and due to his small mouth and jaw, we anticipated difficult mask ventilation and tracheal intubation. To avoid 'can't ventilate, can't

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

We report on a 10-year-old boy presenting with obesity, moderate mental retardation, large anterior fontanelle at birth, mild physical anomalies including mid-face hypoplasia, deep-set eyes, long philtrum, and small mouth. He was found to carry a paracentric inversion inv(1)(p22p36.2) associated

[Anesthesia for ten patients with Prader-Willi syndrome].

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Previous reports indicate that Prader-Willi syndrome may present various problems during anesthesia and the perioperative period. We retrospectively investigated anesthesia records of 10 patients (2 adults and 8 children) who were diagnosed to have Prader-Willi syndrome, and who had an operation

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

The 15q11-q13 PWS/AS critical region involves genes that are characterized by genomic imprinting. Multiple repeat elements within the region mediate rearrangements, including interstitial duplications, interstitial triplications, and supernumerary isodicentric marker chromosomes, as well as the

Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

We describe a brother and sister with craniofacial dysmorphism, short stature, relative obesity, sensorineural deafness, multiple pigmented naevi and severe mental retardation. One sibling had keratoconus and the other had an iris coloboma. Dysmorphic features included brachycephaly, hypotelorism,

The use of the cuffed oropharyngeal airway in paediatric patients.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

BACKGROUND The cuffed oropharyngeal airway (COPA) is a device which has already been demonstrated to be suitable for anaesthetized adult patients undergoing either spontaneous or mechanical ventilation. There are few reports on the use of the COPA in children. In this study, the authors assessed the

antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome).

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

BACKGROUND Antiphospholipid syndrome (APS, or Hughes' syndrome) is a systemic autoimmune disorder characterized by antiphospholipid antibody positivity, which may lead to arterial and/or venous thrombosis. Hyperhomocysteinemia (HHcy), variously associated with 5,10-methylene tetrahydrofolate

Prader-Willi syndrome in neonates: twenty cases and review of the literature in Southern China.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Prader-Willi syndrome is a rare genetic abnormality that can be challenging to diagnose early, but for which early interventions improve prognosis. To improve understanding of Prader-Willi syndrome in neonates in Asia, we retrospectively analyzed the clinical records of 20 affected newborns

Chromosome 15q24 microdeletion syndrome.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism,

Short stature and azoospermia in a patient with Y chromosome long arm deletion.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

We report on a 42-year old male with short stature, azoospermia and a wide deletion of long arm of Y chromosome. On physical examination, the patient showed height of 149 cm (< 1 degree centile) and reduced volume (3 ml) and consistency of the testes. On hormonal evaluation, he showed increased

Pievienojieties mūsu
facebook lapai

Herbal & Natural Medicine

Vispilnīgākā ārstniecības augu datu bāze, kuru atbalsta zinātne

Darbojas 55 valodās
Zāļu ārstniecības līdzekļi, kurus atbalsta zinātne
Garšaugu atpazīšana pēc attēla
Interaktīva GPS karte - atzīmējiet garšaugus atrašanās vietā (drīzumā)
Lasiet zinātniskās publikācijas, kas saistītas ar jūsu meklēšanu
Meklēt ārstniecības augus pēc to iedarbības
Organizējiet savas intereses un sekojiet līdzi jaunumiem, klīniskajiem izmēģinājumiem un patentiem

Ierakstiet simptomu vai slimību un izlasiet par garšaugiem, kas varētu palīdzēt, ierakstiet zāli un redziet slimības un simptomus, pret kuriem tā tiek lietota.
* Visa informācija ir balstīta uz publicētiem zinātniskiem pētījumiem