A RARE FORM OF HYPOPHOSPHATEMIC RICKETS DUE TO MUTATIONS IN THE SLC34A3 GENE: DIAGNOSIS AND TREATMENT PECULIARITIES

2018 ◽  
Vol 97 (6) ◽  
pp. 69-73
Author(s):  
E.A. Nikolaeva ◽  
◽  
S.Yu. Kuznetsova ◽  
V.Yu. Voinova ◽  
Yu.I. Davydova ◽  
...  
Keyword(s):  
Diagnosis And Treatment ◽  
Hypophosphatemic Rickets ◽  
Rare Form ◽  
Gene Diagnosis

scholarly journals Laparoscopic management of an unruptured cesarean scar ectopic pregnancy

2017 ◽  
Vol 6 (10) ◽  
pp. 4715
Author(s):  
Anurag Bhate ◽  
Neelima Deshmukh ◽  
Swati Chitnis
Keyword(s):  
Ectopic Pregnancy ◽  
Diagnosis And Treatment ◽  
Rare Form ◽  
Laparoscopic Management ◽  
Cesarean Scar ◽  
Retained Products Of Conception ◽  
Cesarean Deliveries ◽  
Products Of Conception ◽  
Retained Products

Cesarean scar ectopic pregnancy (CSEP) is a rare form of ectopic pregnancy. With Cesarean deliveries on the rise, scar ectopic is being increasingly diagnosed. Also, more cases have led to better understanding of diagnosis and treatment of this condition. We present a case of scar ectopic which was initially diagnosed as retained products of conception. The ectopic mass was later resected laparoscopically, thus preserving the uterus and fertility.

Lens and Intraocular Lens-Induced Uveitis; Clinic, Diagnosis, and Treatment

2020 ◽  
pp. 263-266
Keyword(s):  
Intraocular Lens ◽  
Surgical Techniques ◽  
Intraocular Lenses ◽  
Diagnosis And Treatment ◽  
Definitive Treatment ◽  
Surgical Trauma ◽  
Rare Form ◽  
Autoimmune Phenomenon ◽  
Eye Examination ◽  
Treatment Surgery

Lens-induced uveitis is a rare form of uveitis. It is an autoimmune phenomenon secondary to lens proteins that go out of the lens capsule due to exogenous or iatrogenic (surgical) trauma. The classic history and eye examination findings are typical for diagnosis. For the treatment, surgery is usually chosen in the forefront. Intraocular lens-induced uveitis is a rare form of uveitis that can be seen as a result of micro-and macro trauma of intraocular lens implants to intraocular tissues (iris, ciliary body, iridocorneal angle, etc.). Although this entity can be regressed by medical treatment, the definitive treatment is the removal or repositioning of the intraocular lens according to the etiological event. With the development of minimal traumatic surgical techniques and the use of new intraocular lens implants, its frequency decreases. The aim of this review is to summarize the general features, diagnosis, and treatment of uveitis due to lenses and intraocular lenses.

A New Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria: Implications for Correct Diagnosis and Treatment

Nephron ◽  
1992 ◽  
Vol 62 (2) ◽  
pp. 176-181 ◽  
Author(s):  
Martin Tieder ◽  
Raphael Arie ◽  
Itai Bab ◽  
Joseph Maor ◽  
Uri A. Liberman
Keyword(s):  
Correct Diagnosis ◽  
Diagnosis And Treatment ◽  
Hypophosphatemic Rickets

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Elisabeth Steichen-Gersdorf ◽  
Bettina Lorenz-Depiereux ◽  
Tim Matthias Strom ◽  
Nicholas J. Shaw
Keyword(s):  
Hearing Loss ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Hypophosphatemic Rickets ◽  
Loss Of Function ◽  
Rare Form ◽  
Nucleotide Pyrophosphatase ◽  
Renal Tubular ◽  
Autosomal Recessive Hypophosphatemic Rickets

AbstractAutosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (

In the Darkness there can be Light: A Family's Adaptation to a Child's Blindness

2005 ◽  
Vol 99 (4) ◽  
pp. 209-218 ◽  
Author(s):  
Alissa A. Ulster ◽  
Beverley J. Antle
Keyword(s):  
Quality Of Life ◽  
Visual Impairment ◽  
Psychological Trauma ◽  
Diagnosis And Treatment ◽  
Rare Form ◽  
Adaptive Ability

Blindness or significant visual impairment can be very difficult for families to cope with. In this article, the authors present an in-depth case study of a family's journey through diagnosis and treatment for retinoblastoma (RB), a rare form of childhood eye cancer affecting the retina. As a part of the analysis of this family's experience, the authors examine assumptions about children's abilities to cope and predominant notions of quality of life through the experiences of one child, Alex, and his family. In spite of signs of psychological trauma, Alex demonstrated a remarkable adaptive ability and had more insights about his experiences than anticipated. Similarly, following a period of considerable worry for their child's health and his ability to adjust to blindness, the parents, too, feel their family has a good quality of life.

scholarly journals A rare case of mechanical conjunctivitis

2018 ◽  
Vol 11 (3) ◽  
pp. 74-77
Author(s):  
Inna A. Riks ◽  
Sanasar S. Papayan ◽  
Pavel A. Nechiporenko
Keyword(s):  
Surgical Treatment ◽  
Rare Case ◽  
Correct Diagnosis ◽  
Diagnosis And Treatment ◽  
Inflammatory Condition ◽  
Rare Form ◽  
Rare Type ◽  
Treatment Methods ◽  
Long Period

Introduction. Mechanical conjunctivitis is a rare form of eye surface inflammatory condition. One of its types, a mucus fishing syndrome, leads to a chronic eye surface trauma. Purpose. To review the available literature data on the mechanical conjunctivitis prevalence, and to describe the diagnosis and treatment methods of its rare type, the mucus fishing syndrome. Materials and methods. The article describes the case of the mucus fishing syndrome development in a patient suffering from this type of mechanical conjunctivitis for about 3 years. Results. The correct diagnosis was not established in our patient for a long period of time that is why an improper treatment had been prescribed, which led to complications and to the need for surgical treatment. Conclusions. The prevalence of mechanical conjunctivitis is low, and in the available literature, there are only 4 publications on the topic. The mucus fishing syndrome should be treated in cooperation with a psychiatrist, since the usual use of topical reparative and lubricating therapy is not enough.

scholarly journals Gene diagnosis and treatment.

1993 ◽  
Vol 82 (4) ◽  
pp. 598-604
Author(s):  
NAOYUKI KAMATANI
Keyword(s):  
Diagnosis And Treatment ◽  
Gene Diagnosis
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