Results 81 to 90 of about 3,192 (225)

A Novel Claudinopathy Based on Claudin-10 Mutations [PDF]

, 2019
Claudins are key components of the tight junction, sealing the paracellular cleft or composing size-, charge- and water-selective paracellular channels.
Milatz, Susanne
core   +1 more source

Assessing the prevalence of anticholinergic and sedative medications to avoid in older adults from the French Health Data System

Journal of the American Geriatrics Society, Volume 73, Issue 5, Page 1542-1550, May 2025.
Abstract Background In older people, medications with anticholinergic or sedative properties are associated with falls, frailty, and functional and cognitive impairment. These medications are often described as a subset of potentially inappropriate medications (PIMs).
Teddy Novais, Antoine Garnier‐Crussard, Elsa Reallon, Christelle Mouchoux, Frederic Gervais   +4 more
wiley   +1 more source

Presentation of hypohidrotic ectodermal dysplasia in two siblings

Journal of Indian Academy of Oral Medicine and Radiology, 2015
Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder.
Uday Ginjupally, Balaji Babu Bangi, Lavanya Gadapa, Pooja Madki   +3 more
doaj   +1 more source

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review [PDF]

, 2010
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II).
Ida VD Schwartz, Louise LC Pinto, Roberto Giugliani, Taiane A Vieira   +3 more
core   +2 more sources

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, EarlyView.
A George
wiley   +1 more source

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

Contemporary Clinical Dentistry, 2015
The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked ...
Manisha Goyal, Gaurav Pradhan, Sunita Gupta, Seema Kapoor   +3 more
doaj   +1 more source

Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi, Vaishali Keluskar, Anjana Bagewadi   +2 more
doaj  

Fabry's disease manifesting as familial angiokeratoma corporis diffusum in an indian family – A rare occurrence!

Indian Journal of Paediatric Dermatology, 2020
Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological)
Ishmeet Kaur, Archana Singal, Deepak Jakhar, Deepika Pandhi   +3 more
doaj   +1 more source

HED (Hypohidrotic Ectodermal Dysplasia):A Review [PDF]

, 2021
The ectodermal dysplasias (EDs) are a heterogeneous group of inherited, developmental disorders characterized by alterations in two or more ectodermal structures including the hair, teeth, nails and sweat glands.
Bashyam, Murali Dharan, Callea, Michele, Dogan, Mehmet Sinan, Scalisi, Francisco Cammarata, Willoughby, Colin Eric, Yavuz, Izzet   +5 more
core  

Hereditary Ectodermal Dysplasia in Two Identical Siblings

Acta Medica Bulgarica
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected.
Sarkar A. S., Rao K., Ajila V.
doaj   +1 more source