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  1. Article ; Online: Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders

    Amelie S. Lotz-Havla / Katharina J. Weiß / Katharina A. Schiergens / Theresa Brunet / Jürgen Kohlhase / Stephanie Regenauer-Vandewiele / Esther M. Maier

    Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

    a gentle and easy to use alternative to intramuscular injections

    2021  Volume 8

    Abstract: Abstract Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system and ... ...

    Abstract Abstract Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system and the bone marrow. To date, the parenteral, generally intramuscular, lifelong administration of hydroxycobalamin (OHCbl) is the mainstay of therapy in these disorders. The dosage and frequency of OHCbl is titrated in each patient to the minimum effective dose in order to account for the painful injections. This may result in undertreatment, a possible risk factor for disease progression and disease-related complications. Results We describe parenteral administration of OHCbl using a subcutaneous catheter together with a portable infusion pump in a home therapy setting in four pediatric patients with remethylation disorders, two patients with cblC, one patient with cblG, and one patient with cblE deficiency, in whom intramuscular injections were not or no longer feasible. The placement of the subcutaneous catheters and handling of the infusion pump were readily accomplished and well accepted by the patients and their families. No adverse events occurred. The use of a small, portable syringe driver pump allowed for a most flexible administration of OHCbl in everyday life. The concentrations of total homocysteine levels were determined at regular patient visits and remained within the therapeutic target range. This approach allowed for the continuation of OHCbl therapy or the adjustment of therapy required to improve metabolic control in our patients. Conclusions Subcutaneous infusion using a subcutaneous catheter system and a portable pump for OHCbl administration in combined and isolated remethylation disorders is safe, acceptable, and effective. It decreases disease burden in preventing frequent single injections and providing patient independence. Thus, it may promote long-term adherence to therapy in patients and parents.
    Keywords Remethylation disorder ; Cobalamin ; Hydroxycobalamin ; Subcutaneous catheter system ; Subcutaneous infusion ; Infusion pump ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2021-05-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome – a case report

    Manfred Nilius / Jürgen Kohlhase / Johann Lorenzen / Günter Lauer / Matthias C. Schulz

    Head & Face Medicine, Vol 15, Iss 1, Pp 1-

    2019  Volume 10

    Abstract: Abstract Background The Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by keratocystic odontogenic tumors in the jaws, multiple basal cell carcinomas and skeletal abnormities. Frequently, the manifestation of the syndrome occurs in ...

    Abstract Abstract Background The Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by keratocystic odontogenic tumors in the jaws, multiple basal cell carcinomas and skeletal abnormities. Frequently, the manifestation of the syndrome occurs in the adolescent years. Case presentation An 11-year-old boy was referred to our clinic due to the persistence of the lower deciduous molars. The further diagnosis revealed bilateral keratocystic odontogenic tumors in the region of teeth 33 and 45 representing a symptom of a Gorlin-Goltz syndrome. This case of the oral rehabilitation of an adolescent with bilateral keratocystic odontogenic tumors shows the approach of a multidisciplinary treatment concept including the following elements: Enucleation and bone defect augmentation using a prefabricated bone graft; distraction osteogenesis to extend the graft-block vertically after cessation of growth; accompanying orthodontic treatment, guided implant placement and prosthetic rehabilitation. Six months after implant insertion, a new keratocystic odontogenic tumor in the basal part of the left sinus maxillaris had to be removed combined with the closure of the oroantral fistula. During the follow-up period of 18 months in semi-annual intervals, the patient showed no sign of pathology. Conclusion In the presented case could be shown that distraction osteogenesis of prefabricated bone blocks is possible. With a multidisciplinary approach in a long-term treatment a sufficient oral rehabilitation of the patient suffering from extended keratocystic odontogenic tumors was possible.
    Keywords Bone graft ; Dental implant ; Distraction osteogenesis ; Keratocystic odontogenic tumor ; Specialties of internal medicine ; RC581-951
    Subject code 616
    Language English
    Publishing date 2019-02-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: EIF3F-related neurodevelopmental disorder

    Ulrike Hüffmeier / Cornelia Kraus / Miriam S. Reuter / Steffen Uebe / Mary-Alice Abbott / Syed A. Ahmed / Kristyn L. Rawson / Eileen Barr / Hong Li / Ange-Line Bruel / Laurence Faivre / Frédéric Tran Mau-Them / Christina Botti / Susan Brooks / Kaitlyn Burns / D. Isum Ward / Marina Dutra-Clarke / Julian A. Martinez-Agosto / Hane Lee /
    Stanley F. Nelson / UCLA California Center for Rare Disease / Pia Zacher / Rami Abou Jamra / Chiara Klöckner / Julie McGaughran / Jürgen Kohlhase / Sarah Schuhmann / Ellen Moran / John Pappas / Annick Raas-Rothschild / Maria J. Guillen Sacoto / Lindsay B. Henderson / Timothy Blake Palculict / Sureni V. Mullegama / Houda Zghal Elloumi / Adi Reich / Samantha A. Schrier Vergano / Erica Wahl / André Reis / Christiane Zweier

    Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

    refining the phenotypic and expanding the molecular spectrum

    2021  Volume 9

    Abstract: Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable ... ...

    Abstract Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and molecular spectrum of EIF3F-related neurodevelopmental disorder, we examined independent patients. Results 21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behavioral problems, altered muscular tone, hearing loss, and short stature. Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. Minor dysmorphic features were observed, although neither the individuals’ facial nor general appearance were obviously distinctive. Symptoms in the compound heterozygous individual with an additional truncating variant were at the severe end of the spectrum in regard to motor milestones, speech delay, organic problems and pre- and postnatal growth of body and head, suggesting some genotype–phenotype correlation. Conclusions Our study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder.
    Keywords EIF3F gene ; Neurodevelopmental disorder ; Short stature ; Deafness ; Behavioral difficulties ; Altered muscular tone ; Medicine ; R
    Subject code 150
    Language English
    Publishing date 2021-03-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Molecular Modeling of c2h2 Zinc Finger Mutation of Putative Human Transcription Factor SALL4

    Vladimír Frecer / Jan Miertus / Wiktor Borozdin / Jürgen Kohlhase / Antonio Amoroso / Stanislav Miertus

    Internet Electronic Journal of Molecular Design, Vol 3, Iss 6, Pp 295-

    2004  Volume 307

    Abstract: The SALL4 gene, Drosophila's region specific homeotic sal (spalt)-like gene family member, encodes for a zinc finger (ZF) transcription factor (TF). Mutations of the SALL4 have been demonstrated to cause the Okihiro syndrome a combination of Duane ... ...

    Abstract The SALL4 gene, Drosophila's region specific homeotic sal (spalt)-like gene family member, encodes for a zinc finger (ZF) transcription factor (TF). Mutations of the SALL4 have been demonstrated to cause the Okihiro syndrome a combination of Duane retraction syndrome and radial ray defects. We have studied a missense point mutation of the SALL4 (nucleotide substitution 2663A→G, residues substitution His:888→Arg:888) positioned within the first c2h2 ZF of the C-terminal double ZF motif in the SALL4 gene identified in an Italian three-generation family, some members of which displayed the clinical features of the Okihiro syndrome. We performed a molecular modeling study on the wild type ( wt ) and mutated ( mt ) ZF domains of the SALL4 TF with the goal to propose a plausible hypothesis relating the modeled structural and energetic differences between the wt and mt forms to the defects connected with the observed mutation. Sequence alignment, homology protein modeling and molecular mechanics using CFF91 force field were utilized to build and refine the ZF models and to estimate their stability and DNA-binding affinity. We have modeled wt and mt ZF motifs of the SALL4 TF based on sequence homology with ZF domains of TFs with known crystal structures co-crystallized with a B-DNA segment. Secondary structure, zinc ion binding and DNA binding of the two static ZF models were analyzed in terms of mutual r.m.s. deviations and intramolecular and intermolecular interaction energies. The modeled wt and mt forms of ZF motif of the SALL4 TF did not display significant structural differences cased by steric strain or charge of the bulkier Arg:888 and retained similar supersecondary structures and comparable strength of the zinc ion binding. However, more significant differences were predicted in their binding affinities to DNA. Calculated higher DNA binding affinity (and possibly also changed specificity) of the mt form of the ZF could be the reason for the altered activator/repressor function of the mutant form of the SALL4 TF at its natural target gene or the cause for erroneous targeting of a different DNA sequence of the same or another gene. We may thus hypothesize that the pathogenic effects of the mutation could be related to the altered regulation function by making the dissociation of the mt SALL4 TF-gene adducts more difficult.
    Keywords SALL4 ; transcription factor ; zinc finger ; mutant form ; Okihiro syndrome ; molecular mechanics ; Biochemistry ; QD415-436 ; Organic chemistry ; QD241-441 ; Chemistry ; QD1-999 ; Science ; Q ; DOAJ:Biochemistry ; DOAJ:Life Sciences ; DOAJ:Biology and Life Sciences
    Subject code 540
    Language English
    Publishing date 2004-06-01T00:00:00Z
    Publisher BioChem Press
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

    Morad Ansari / Jacqueline Rainger / Isabel M Hanson / Kathleen A Williamson / Freddie Sharkey / Louise Harewood / Angela Sandilands / Jill Clayton-Smith / Helene Dollfus / Pierre Bitoun / Francoise Meire / Judy Fantes / Brunella Franco / Birgit Lorenz / David S Taylor / Fiona Stewart / Colin E Willoughby / Meriel McEntagart / Peng Tee Khaw /
    Carol Clericuzio / Lionel Van Maldergem / Denise Williams / Ruth Newbury-Ecob / Elias I Traboulsi / Eduardo D Silva / Mukhlis M Madlom / David R Goudie / Brian W Fleck / Dagmar Wieczorek / Juergen Kohlhase / Alice D McTrusty / Carol Gardiner / Christopher Yale / Anthony T Moore / Isabelle Russell-Eggitt / Lily Islam / Melissa Lees / Philip L Beales / Stephen J Tuft / Juan B Solano / Miranda Splitt / Jens Michael Hertz / Trine E Prescott / Deborah J Shears / Ken K Nischal / Martine Doco-Fenzy / Fabienne Prieur / I Karen Temple / Katherine L Lachlan / Giuseppe Damante

    PLoS ONE, Vol 11, Iss 4, p e

    2016  Volume 0153757

    Abstract: We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals ... ...

    Abstract We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris hypoplasia, ataxia and mild to moderate developmental delay). Array-based comparative genomic hybridization identified six whole gene deletions: four encompassing PAX6 and two encompassing FOXC1. Six deletions with plausible cis-regulatory effects were identified: five that were 3' (telomeric) to PAX6 and one within a gene desert 5' (telomeric) to PITX2. Sequence analysis of the FOXC1 and PITX2 coding regions identified two plausibly pathogenic de novo FOXC1 missense mutations (p.Pro79Thr and p.Leu101Pro). No intragenic mutations were detected in PITX2. FISH mapping in an individual with Gillespie-like syndrome with an apparently balanced X;11 reciprocal translocation revealed disruption of a gene at each breakpoint: ARHGAP6 on the X chromosome and PHF21A on chromosome 11. In the other individuals with Gillespie syndrome no mutations were identified in either of these genes, or in HCCS which lies close to the Xp breakpoint. Disruption of PHF21A has previously been implicated in the causation of intellectual disability (but not aniridia). Plausibly causative mutations were identified in 15 out of 42 individuals (12/32 aniridia; 3/11 Gillespie syndrome). Fourteen of these mutations presented in the known aniridia genes; PAX6, FOXC1 and PITX2. The large number of individuals in the cohort with no mutation identified suggests greater locus heterogeneity may exist in both isolated and syndromic aniridia than was previously appreciated.
    Keywords Medicine ; R ; Science ; Q
    Language English
    Publishing date 2016-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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