ascher's syndrome

BACKGROUND: The novel severe acute respiratory syndrome Coronavirus (SARS-CoV-2) disease has transformed innumerable aspects of medical practice, particularly in the field of transplantation. MAIN BODY: Here we describe a single-center approach to creating a generalizable, comprehensive, and graduated set of recommendations to respond in stepwise fashion to the challenges posed by these conditions, and the underlying principles guiding such decisions. CONCLUSION: Creation of a stepwise plan will allow transplant centers to respond in a dynamic fashion to the ongoing challenges posed by the COVID-19 pandemic...

Ascher syndrome is characterized by double lip, blepharochalasis, and non-toxic goiter triad. This condition of unknown etiology usually occurs in patients younger than 20 years of age. In this case report, the authors present the diagnostic process of Ascher syndrome and surgical procedure of double lower lip in a female patient who applied to our clinic for prosthetic reasons. A 70-year old female patient was referred to our clinic with the chief complaint of incompatible dentures. The patient had been using the same complete dentures for 40 years...

The most common known causes of female infertility are male factor (26%), ovulatory failure (21%), and tubal damage (14%), while in 28% a couple's infertility remains unexplained. Female-specific causes of infertility include deterioration of oocyte quality with increasing maternal age; ovulatory disorders, most notably polycystic ovarian syndrome; history of salpingitis such as that caused by chlamydia infection; endometriosis; and uterine cavity abnormalities interfering with implantation causing inability to become pregnant or causing recurrent pregnancy loss...

Intraosseous (IO) needles are used in patients who are critically ill when it is not possible to obtain venous access. While IO allows for immediate access, IO infusions are associated with complications including fractures, infections, and compartment syndrome. We present a case of an 87-year-old man who developed lower extremity compartment syndrome after receiving an IO needle insertion and had to be treated surgically with fasciotomy to correct the problem.

BACKGROUND: Pathogenic germline variants in subunits of succinate dehydrogenase ( SDHB , SDHC and SDHD ) are broadly associated with disease subtypes of phaeochromocytoma-paraganglioma (PPGL) syndrome. Our objective was to investigate the role of variant type (ie, missense vs truncating) in determining tumour phenotype. METHODS: Three independent datasets comprising 950 PPGL and head and neck paraganglioma (HNPGL) patients were analysed for associations of variant type with tumour type and age-related tumour risk...

OBJECTIVE: Thrombolytic therapy is widely used in the treatment of arterial occlusions causing acute limb ischemia (ALI); however, knowledge regarding the efficacy of the different catheter systems available is scarce. The objective of this study was to compare the safety and efficacy of 2 catheter-directed infusion systems for intra-arterial thrombolysis in the setting of ALI. METHODS: A retrospective analysis was conducted to study all catheter-directed thrombolysis procedures performed over 32 months in patients diagnosed with ALI...

Ascher syndrome is a disease that is characterized by upper eyelid edema, double lip, and swelling in the thyroid glands whose etiology is unknown, and it is usually seen in young people over the age of 20. Blepharochalasis and double lip are observed in these patients as a result of the recurring lip and upper eyelid edema. The disease is benign and seen in both sexes and all races in about the same amounts. Although this syndrome rarely leads to functional problems, it usually leads to psychological problems in the patients it affects due to the malformations on their faces...

No abstract text is available yet for this article.

Double lip is a rare abnormality. It affects the lips, more often the upper lips and could be acquired or congenital. It may be associated with Ascher's syndrome or occur in isolation. In this deformity, there is an accessory fold of redundant mucous membrane inside the vermillion border. This cupid's bow-shaped accessory tissue is usually conspicuous during smiling but maybe occasionally visible even at rest. For the patient, this atypical facial deformity most importantly creates an aesthetic problem. Nonetheless, it may also interfere with their speech or function...

No abstract text is available yet for this article.

Background: With the use of split liver grafts as well as living donor liver transplantation (LDLT) it is imperative to know the minimum graft volume to avoid complications. Most current formulas to predict standard liver volume (SLV) rely on weight-based measures that are likely inaccurate in the setting of cirrhosis. Therefore, we sought to create a formula for estimating SLV without weight-based covariates. Methods: LDLT donors underwent computed tomography scan volumetric evaluation of their livers...

Ascher's syndrome consists of double lip, blepharochalasis and sometimes non-toxic thyroid enlargement. It is a rare, benign, rarely reported, and sometimes misdiagnosed condition that most often affects patients under 20 years old. The etiology remains unknown, although factors such as trauma, hormonal dysfunction and heredity have been suggested. Treatment based on surgical intervention is indicated to improve aesthetics or function. The presented case shows a patient diagnosed with Ascher's syndrome based on clinical findings such as double lip and blepharochalasis...

Background Dialysis access-associated steal syndrome is a major complication of arteriovenous fistula creation whereby the low-resistance venous conduit shunts arterial inflow through the anastomosis, resulting in clinically significant distal artery insufficiency. Herein, we describe a case of severe steal phenomenon with gangrene of a digit following placement of an arteriovenous fistula that was treated with a novel, entirely endovascular technique. To our knowledge, this was the first totally endovascular approach to dialysis access-associated steal syndrome...

The folliculin/Fnip complex has been demonstrated to play a crucial role in the mechanisms underlying Birt-Hogg-Dubé (BHD) syndrome, a rare inherited cancer syndrome. Lst4 has been previously proposed to be the Fnip1/2 orthologue in yeast and therefore a member of the DENN family. In order to confirm this, we solved the crystal structure of the N-terminal region of Lst4 from Kluyveromyces lactis and show it contains a longin domain, the first domain of the full DENN module. Furthermore, we demonstrate that Lst4 through its DENN domain interacts with Lst7, the yeast folliculin orthologue...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

The sticky platelet syndrome is a congenital disorder, characterized by abnormal platelet aggregation in response to epinephrine and/or adenosine phosphate. We present a case of intraoperative carotid artery thrombosis, after patch angioplasty. The successful repair was only feasible on administration of antiplatelet therapy. Presence of sticky platelet syndrome should be considered during vascular operative interventions, and load of antiplatelet agents should be given in patients with unexplained repeated thrombosis of arterial repair, as we described and reported this case...

Ascher syndrome is a disease of unknown etiology first described in 1920 by Ascher, an ophthalmologist from Prague. It presents with recurrent edema of the lip and upper eyelid resulting in double lip and blepharochalasis. In 10% of cases the idiopathic nontoxic thyroid enlargement also occurs. Because of its rarity, it is often undiagnosed. A case of early onset is presented with its respective surgical treatment and outcome.

An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed...

OBJECTIVE: To evaluate the efficacy, safety, and impact on hospitalizations of long-acting injectable paliperidone palmitate (PP) treatment, in patients with recent-onset schizophrenia who had not responded satisfactorily to oral antipsychotics. METHODS: In this 18-month, open-label, Phase-IIIb study from Asia-Pacific region, patients (18-50 years) with recent-onset (≤5 years) schizophrenia unsatisfactorily treated with previous oral antipsychotics were initiated on PP 150 mg eq on day 1, 100 mg eq on day 8, followed by flexible once monthly maintenance doses of 50-150 mg eq...