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H Collmann

Publications and source records attributed to H Collmann.

At least 19 recordsLinked to original sources
PubMed2006

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia.

BACKGROUND: Hypophosphatasia (HP) is an inborn error of bone metabolism characterized by a genetic defect in the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP). There is a lack of knowledge as to how the variability and clinical severity of the HP phenotype (especially pain and walking impairment) are related to metabolic disturbances or impairments, subsequent to the molecular defect. METHODS: We analyzed the changes in clinical symptoms and the prostaglandin (PG) metabolism in response to treatment with non-steroidal anti-inflammatory drugs (NSAIDs) in six children affected by childhood HP. In addition, by exposing HP fibroblasts to pyridoxal phosphate and/or calcium pyrophosphate in vitro, we analyzed whether the alterations in PG levels are sequelae related to the metabolic defect. RESULTS: Childhood HP patients, who often complain about pain in the lower limbs without evident fractures, have systemic hyperprostaglandinism. Symptomatic anti-inflammatory treatment with NSAIDs significantly improved pain-associated physical impairment. Calcium pyrophosphate, but not pyridoxal phosphate, induced cyclooxygenase-2 (COX-2) gene expression and PG production in HP and normal fibroblasts in vitro. CONCLUSION: Clinical features of childhood HP related to pain in the lower legs may be, at least in part, sequelae related to elevated PG levels, secondary to the primary metabolic defect. Consequently, NSAID treatment does improve the clinical features of childhood HP.

Adolescent↗
PubMed2005

Cutaneous lesions in occult spinal dysraphism--correlation with intraspinal findings.

OBJECTS: This study was conducted to investigate the frequency and type of cutaneous stigmata in different forms of occult spinal dysraphism (OSD) and their correlation to the underlying malformation. METHODS: Fourteen different forms of spinal malformations were identified in 358 operated patients with OSD. Most frequent findings (isolated or in combinations) were spinal lipoma, split cord malformation, pathologic filum terminale, dermal sinus, meningocele manqué, myelocystocele and caudal regression. Stigmata were present in 86.3% of patients, often in various combinations. Using a binary logistic regression analysis, significant correlations with distinct malformations were found for subcutaneous lipomas, skin tags, vascular nevi, pori, hairy patches, hypertrichosis, meningoceles and "cigarette burn" marks. CONCLUSIONS: Cutaneous markers in a high percentage accompany spinal malformations. Due to the correlations of different stigmata to distinct malformations, they can aid the clinician in further diagnostic and therapeutic work.

Adolescent↗
PubMed2005

Hydrocephalus in craniosynostosis: a review.

INTRODUCTION: Ventricular dilatation in the presence of primary craniosynostosis is a unique condition with respect to pathogenesis, clinical significance, and morphological appearance. It is rarely observed in nonsyndromic craniosynostosis, and in these cases usually attributable to coincidental disorders. Conversely, it is a common feature of syndromic craniosynostosis, affecting at least 40% of patients with Crouzon's, Pfeiffer's or the Apert syndrome. Shunt-dependent hydrocephalus is predominantly associated with Crouzon or Pfeiffer syndrome while in the Apert syndrome the usual finding is nonprogressive ventriculomegaly which, however, may also occur in some cases of Crouzon syndrome. PATHOGENESIS: The pathogenesis of progressive hydrocephalus remains somewhat obscure, a hypoplastic posterior fossa and a venous outlet occlusion at the skull base being the main causative factors discussed in literature. Ventriculomegaly may reflect primary brain maldevelopment or in some cases even a compensated state of increased cerebrospinal fluid (CSF) outflow resistance. CLINICAL EVALUATION: Clinical evaluation is mainly aimed at identifying progressive hydrocephalus, but diagnosis is hampered by the fact that classical clinical signs may be absent, and that ventricular dilatation will often become evident only after decompressive cranial surgery. Moreover, mild ventriculomegaly may in some cases coexist with intracranial hypertension from craniostenosis. Therefore, careful monitoring of intracranial pressure and ventricular size in the pre- and postoperative period is a diagnostic mainstay. CONCLUSION: In true hydrocephalus ventriculo-peritoneal shunting is currently the single promising mode of treatment.

Cranial Sutures↗
PubMed2004

[Pioneers of neurosurgery: Emil Heymann (4/15/1878-1/11/1936)].

Following Fedor Krause and Otfrid Foerster, pioneers of neurosurgery in Germany, Emil Heymann was one of the outstanding promoters of the young surgical section, before it emerged as an independent specialty. As successor to Fedor Krause at the Augusta-Hospital, Berlin, he consistently improved techniques of investigation and operative treatment of intracranial and spinal tumors. Because of his Jewish parents he was persecuted by the Nazi regime, who nearly succeeded that his name fall into oblivion.

Brain Neoplasms↗
PubMed2002

Immunolocalization of urokinase and its receptor in prematurely fused cranial sutures of infants.

In cranial sutural samples derived from five children with premature cranial suture fusion we have performed immunostaining for the urokinase plasminogen activator (uPA) and urokinase receptor (uPAR). We have found a strong reactivity for cell- or matrix-bound uPA and uPAR in the sutural connective tissue and associated with the osteoblasts and osteocytes lining the calvarial bone. The sutural tissue itself showed a banding with different intensity of urokinase and uPAR staining concerning connective tissue. It is proposed that the components of the plasminogen activating system are involved in tissue turnover of sutural tissue and in sutural growth.

Connective Tissue↗
PubMed2001

Standardized evaluation and documentation of findings in patients with craniosynostosis.

Surgical correction of craniosynostosis is usually performed according to standard procedures. However, a standard for clinical examination and report of findings for patients with craniosynostosis does not exist as yet. To compare findings from different hospitals, a documentation system was developed by a national craniosynostosis group. This system comprises a two-page document, clinical photographs, radiographs, CT scans, anthropometric measurements and molecular genetic findings. Data from craniosynostosis patients collected from participating hospitals are stored in a database, which facilitates online access.The documentation system was developed in cooperation with the group during 3 years since 1996. It was evaluated as being practicable and reliable and enables a comparability of findings reported in different hospitals. Molecular genetic analysis was found to support the investigation of patients with craniosynostosis and should therefore be integrated in the clinical evaluation. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.

Journal Article↗
PubMed2001

Surgical management of tethered spinal cord in adults: report of 54 cases.

OBJECT: The clinical features specific to tethered cord syndrome (TCS) in adults as well as factors determining outcome and prognosis have rarely been addressed systematically. The authors studied 56 patients, 54 of whom were treated surgically over the last 16 years. METHODS: In 17 patients who had been asymptomatic during childhood, TCS was diagnosed 8 years after onset of symptoms. Tethered cord syndrome was diagnosed 4 years after worsening in 39 patients with neurological signs or symptoms since childhood. The patients were followed for an average of 8 years. Features specific to adult-age presentation included nondermatomal pain aggravated by movement in 34 patients and conditions such as pregnancy and childbirth (in five of 11 pregnant patients). The most frequent tethering lesions were lipoma in 32, tight terminal filum in 28, and split cord malformation and secondary adhesions in 12 patients, respectively. Improvement or stabilization of symptoms at 6 months after surgery was noted in 46 (85%) of 54 patients. Improvement in pain status was most frequent (86%) followed by improvements in spasticity (71%), bladder dysfunction (44%), and sensorimotor deficits (35%). Factors associated with adverse outcome included preoperative duration of neurological deficits more than 5 years and incomplete untethering. On average, 8 (80%) of 10 patients with incomplete untethering developed recurrent symptoms 5 years after surgery compared with only seven (16%) of 44 patients in whom complete untethering was achieved. Seven patients underwent reoperation and in five of them stabilization of symptoms was attained. At a mean follow up of 8 years, 46 (85%) of the 54 surgically treated patients were in stable neurological condition, including those in whom reoperation was performed. CONCLUSIONS: Surgery for TCS is as beneficial in adults as it is in children. Its success depends on early diagnosis and complete untethering of the spinal cord.

Adolescent↗
PubMed2000

Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

A cohort of 36 unrelated German patients with craniosynostosis syndromes of the Crouzon and Pfeiffer type were analyzed for FGFR mutations. Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST. Mutations in FGFR2 clustered at two critical cysteine residues, 278 and 342, which were involved in 18 of 30 cases (60%). These two mutational hot spots, therefore, are prime targets for an efficient mutation-screening strategy. The spectrum of mutations overlapped the two syndromes and thus reflected the phenotypic similarities observed in both patient groups. In 21 families, the origin of the mutation could be traced by analyzing parents and relatives. Eleven mutations arose de novo, indicating a high mutation rate for FGFR2. In the 10 familial cases, the clinical presentation varied considerably within the pedigree, but both syndromes "bred true," i.e., a Pfeiffer syndrome phenotype was never observed in a Crouzon syndrome family and vice versa.

Acrocephalosyndactylia↗
PubMed2000

An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.

Non-syndromic trigonocephaly is a heterogeneous entity; in most cases the origin is unknown. Rare cases with autosomal dominant and recessive inheritance exist. Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found.

Adult↗
PubMed1998

[Long-term outcome after corrective surgery of the neuro- and viscerocranium of patients with simple and syndrome-related premature craniosynostosis].

A retrospective and partly prospective study was conducted to analyse both clinically and cephalometrically the craniofacial growth pattern of patients with isolated and syndrome-related premature craniosynostosis after standardized fronto-orbital and midface advancement. The file data of 293 children with fronto-orbital advancement were evaluated over an average period of 4.4 years. In addition, lateral teleradiographies of 117 patients from this group were cephalometrically analysed. Moreover, late results of 36 children and 8 adults with midface-advancement with an average follow-up period of 4.5 years were assessed. In contrast to linear craniectomy and so-called lateral canthal advancement, in only 8.2% of cases (24 out of 293 patients) were relapses requiring reoperation found in this study after fronto-orbital advancement. The evaluations indicate that with simple forms of craniosynostosis such as trigonocephaly and plagiocephaly predominantly very good or good growth can be observed. Cephalometric evaluation confirmed the limited potential of growth in the area of the anterior skull base and in the midface in the presence of syndrome-related faciocraniosynostoses. In such cases the cephalometrically confirmed maxillary hypoplasia, which increases in severity in the following order of syndromes 'Saethre-Chotzen-Crouzon-Apert-Pfeiffer', could be influenced only to a limited degree by fronto-orbital advancement. For this reason midface advancement is of secondary importance in children with very severe anomalies. In the present evaluation, a high rate of relapse of midfacial hypoplasia was to be found in children and adolescents after this operation in accordance with other references. Therefore, the indication for Le Fort III osteotomy in the growth period should be limited.

Adult↗
PubMed1997

A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

We identified a novel mutation in members of a family with signs of Crouzon syndrome and plagiocephaly. In affected members of the family an A-->G transition was found at position 886 in exon 5 of the fibroblast growth factor receptor 2 (FGFR2) gene. The base change results in the replacement of a lysine by glutamic acid in Ig-like loop III of FGFR2. The unusual finding of plagiocephaly in these Crouzon patients may either be the result of the type of mutation or because of genetic and environmental factors that affect the phenotype in addition to the mutated FGF receptor.

Adult↗
PubMed1996

Consensus: trigonocephaly.

Trigonocephaly mostly occurs in isolated synostosis of the metopic suture, but 10-20% of patients are affected by complex syndromes, and in 2-5% the condition is familial. Intracranial hypertension has been observed in a minority of cases, but is never severe. Surgery is performed mainly for cosmetic reasons, following the standard principles of craniofacial surgery. Complications are rare and satisfactory cosmetic results are generally obtained. There is little likelihood for recurrent deformity.

Craniosynostoses↗
PubMed1996

Craniofacial growth characteristics after bilateral fronto-orbital advancement in children with premature craniosynostosis.

The standardized bilateral fronto-orbital advanced method of osteotomy established at the University of Wuerzburg is applied in all forms of craniosynostosis except scaphocephalus. The intention behind early operation is to halt progression of the disorder and to institute the physiological direction that growth should take. The preoperative severity of the disorder, the particular symptoms of the various malformations concerned, and the postoperative course of growth were analyzed and assessed both clinically and cephalometrically using the retrospective evaluations of the file data of 131 children with various forms of craniosynostosis. In contrast to linear craniectomy and so-called lateral canthal advancement, which have sometimes been thought to lead to undesirable postoperative growth development, only 11 relapses requiring renewed operation were found postoperatively in our own study of 131 children. It became evident that the greater the severity of the malformation, the more probable it was that a relapse would occur. Fronto-orbital advancement can only affect the pathological growth pattern to a limited degree, especially when craniosynostosis is related to a syndrome. Cephalometric evaluation confirmed the limited potential for growth in the area of the anterior skull base and in the mid-face in the presence of syndrome-related brachycephaly and severe facio-craniosynostoses. In such clinical cases, compensatory growth of maxillary hypoplasia cannot be expected after fronto-orbital advancement.

Cephalometry↗
PubMed1996

Recurrent bacterial meningitis.

UNLABELLED: To characterize recurrent bacterial meningitis in children, we reviewed the charts of all patients treated for more than one episode of bacterial meningitis at the Würzburg University Children's Hospital from 1980 to June 1995. Twenty-five children suffered 2-13 episodes of bacterial meningitis. Most patients were referred from other hospitals to our paediatric neurosurgical service. No immunodeficiency was found. In all patients, the cause of recurrent meningitis was an anatomical lesion with 13 intracranial defects including encephaloceles, skull fractures, Mondini dysplasias, neurenteric cyst, fibrous dysplasia, persistent craniopharyngeal duct, and 12 lumboscral defects with a dermoid cyst within the lumbosacral spine. A first episode of meningitis at school age did not exclude a congenital defect. In total, 84 episodes of meningitis were treated, a pathogen was isolated in 77%. The most common pathogen was Streptococcus pneumoniae, followed by Escherichia coli, Staphylococci and others. The pathogen isolated often gave a clue to the location of the defect. Personal history was often unrewarding and in some cases the search for the anatomical lesion required repeated imaging and explorative surgery. In 24 of 25 cases, final treatment of recurrent meningitis was by surgical intervention. CONCLUSION: In recurrent bacterial meningitis, excessive diagnostic and therapeutic procedures are indicated. An anatomical defect is a very probable cause.

Algorithms↗
PubMed1989

Functional and anatomic aspects of the orbitotomy in craniofacial surgery.

The orbitotomy has a central importance in craniofacial surgery. It is indicated for premature craniosynostoses, malformations and tumor surgery. The aim of the treatment is to correct functional disturbances and aesthetic impairments. Anatomical structures must be respected. Functional and anatomical aspects of the orbitotomy in craniofacial surgery are described.

Humans↗
PubMed1988

Hydrocephalus in craniosynostosis.

Routine CT scanning in 221 patients with craniosynostosis revealed ventricular dilation in 40. In 5 hydrocephalus was obviously unrelated to the craniostenosis. The remaining 35 cases were associated almost exclusively with syndromic craniosynostosis. Ventricular dilation was mild in 22, moderate in 9, and marked in 4 patients. Clinical and radiological findings strongly suggest that three different mechanisms are involved in the pathogenesis of hydrocephalus: primary cerebral maldevelopment, brain atrophy, and CSF outflow obstruction. In the diagnosis of hydrostatic hydrocephalus with craniosynostosis, head circumference is no indicator of progressive hydrocephalus, and intracranial hypertension may be due either to CSF accumulation or to craniostenosis. The present study indicates that shunt treatment prior to correction of synostosis should be restricted to a few cases of rapidly progressing hydrocephalus. Secondary shunting of hydrocephalus may be considered if intracranial pressure remains high despite adequate cranial decompression. Shunting is not an appropriate treatment for craniostenosis--even in cases of concurrent ventricular dilation.

Adolescent↗
PubMed1988

[Intervertebral disk prolapse in childhood].

Four girls and one boy aged 11 to 16 years presented with lumbar disc disease. The main aspects of the disorder in children and its differences to adults are emphasized. The prognosis following surgical treatment is favourable.

Adolescent↗