scholarly journals Long-Term Evaluation of The Functional and Esthetical Outcomes for The New Method of The Toe-To-Hand Transfer for Full-Length Thumb Reconstruction in Congenital Thumb’s Hypoplasia in Children

2019 ◽  
Vol 73 (2) ◽  
pp. 171-176 ◽  
Author(s):  
Dzintars Ozols ◽  
Jānis Zariņš ◽  
Aigars Pētersons
Keyword(s):  
Metatarsophalangeal Joint ◽  
Metacarpal Bone ◽  
Type I ◽  
Thumb Reconstruction ◽  
Hand Transplantation ◽  
Type Iiib ◽  
Thumb Hypoplasia ◽  
Long Term Follow Up ◽  
The Aesthetic

Abstract Congenital thumb hypoplasia is a rare deformity of the upper extremity. Incidence of thumb hypoplasia type I–V was 2–3 and type IIIb-V was 0.5–1 per 20 000 newborns per year in Latvia. The classification of thumb hypoplasia was created by Blauth in 1967 (type I to V). The base of the metacarpal bone is absent for hypoplasia type IIIb–V; therefore, toe-to hand transplantation is not recommended. A stable first carpometacarpal joint has been considered a mandatory factor for successful toe-to-hand transplantation. A technique for toe-to-hand transplantation for thumb hypoplasia type IIIb–V patients has been described in literature but overall results were not better than pollicisation. The aim of this study is to describe a new technique for thumb reconstruction with a second toe transfer with metatarsophalangeal joint arthrodesis, which can provide a 5-digit hand and restore the functionality of the thumb for thumb hypoplasia IIIb–V. Long-term follow up was done to evaluate the functions and aesthetics of the hands. A survey to evaluate aesthetical outcome for the transplantation method and pollicisation method was completed by 290 respondents. The overall population rated the aesthetic outcomes of the new transplantation method significantly higher than for pollicisation (p < 0.0001).

scholarly journals Long-term follow-up of patients with Bartter syndrome type I and II

2010 ◽  
Vol 25 (9) ◽  
pp. 2976-2981 ◽  
Author(s):  
E. Puricelli ◽  
A. Bettinelli ◽  
N. Borsa ◽  
F. Sironi ◽  
C. Mattiello ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Long Term Follow Up

scholarly journals Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

2019 ◽  
Vol 8 (10) ◽  
pp. 1662 ◽  
Author(s):  
Dinur ◽  
Zimran ◽  
Becker-Cohen ◽  
Arkadir ◽  
Cozma ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Substrate Reduction Therapy ◽  
Type I ◽  
Specific Therapy ◽  
Substrate Reduction ◽  
Long Term Follow Up ◽  
Disease Specific

The introduction of disease-specific therapy for patients with type I Gaucher disease (GD1) was a revolution in the management of patients, but not without cost. Thus, the management of mildly affected patients is still debated. We herein report a long-term follow-up (median (range) of 20 (5–58) years) of 103 GD1 patients who have never received enzymatic or substrate reduction therapy. The median (range) platelet count and hemoglobin levels in last assessment of all but six patients who refused therapy (although recommended and approved) were 152 (56–408) × 103/mL and 13.1 (7.6–16.8) g/dL, respectively. Most patients had mild hepatosplenomegaly. Nine patients were splenectomized. No patient developed clinical bone disease. The median (range) lyso-Gb1 levels at last visit was 108.5 (8.1–711) ng/mL; lowest for patients with R496H/other and highest for patients refusing therapy. This rather large cohort with long follow-up confirms that mildly affected patients may remain stable for many years without GD-specific therapy. The challenge for the future, when newborn screening may detect all patients, is to be able to predict which of the early diagnosed patients is at risk for disease-related complications and therefore for early treatment, and who may remain asymptomatic or minimally affected with no need for disease-specific therapy.

Soluble TNFα receptor type I and hepcidin as determinants of development of anemia in the long-term follow-up of heart failure patients

2012 ◽  
Vol 45 (16-17) ◽  
pp. 1455-1458 ◽  
Author(s):  
A. Martínez-Ruiz ◽  
P.L. Tornel-Osorio ◽  
J. Sánchez-Más ◽  
J. Pérez-Fornieles ◽  
J.A. Vílchez ◽  
...  
Keyword(s):  
Heart Failure ◽  
Receptor Type ◽  
Type I ◽  
Heart Failure Patients ◽  
Long Term Follow Up

Renal function in tyrosinaemia type I after liver transplantation: A long-term follow-up

2005 ◽  
Vol 28 (6) ◽  
pp. 871-876 ◽  
Author(s):  
L. J. W. M. Pierik ◽  
F. J. van Spronsen ◽  
C. M. A. Bijleveld ◽  
C. M. L. van Dael
Keyword(s):  
Liver Transplantation ◽  
Renal Function ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Long Term Follow Up

Antioxidant therapy in a patient with Hyperprolinemia type I presented with mild neuromotor retardation and speech disturbance

2020 ◽  
Author(s):  
Melike Ersoy ◽  
Semra Yılmaz ◽  
Serdar Ceylaner
Keyword(s):  
Neuropsychiatric Symptoms ◽  
Clinical Findings ◽  
Antioxidant Therapy ◽  
Screening Tests ◽  
Psychomotor Development ◽  
Type I ◽  
Speech Disturbance ◽  
Chromosome 22Q11 ◽  
Long Term Follow Up

Abstract Background: Hyperprolinemia type 1 (HPI) is an autosomal recessive inborn disease caused by mutations/deletions of PRODH gene, which is located on chromosome 22q11. The clinic spectrum involves mainly delayed psychomotor development, mild-to-severe mental retardation, neuropsychiatric symptoms and epilepsy. Although HPI can easily be diagnosed in patients undergoing metabolic screening tests, there is no effective therapy protocol in use. There are studies showing that it does most of its clinical findings by disrupting mitochondria function. Case report: We present a long-term follow-up of a four-year-old girl with mild neuromotor retardation and speech disturbance, diagnosed with HPI and treated with antioxidant therapy (vitamin C, CoenzymeQ10, vitamin B complex and L-carnitine) for six years. It has been shown that antioxidant therapy decreases proline levels properly and provides clinical improvement.

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