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PubMedDate not supplied

Expression of human HPRT in the central nervous system of transgenic mice.

Severe deficiency of hypoxanthine phosphoribosyltransferase (HPRT) in man results in the Lesch-Nyhan syndrome, an X-linked neurological disorder characterized by mental retardation, choreoathetosis and a compulsive tendency towards self-mutilation. Although the HPRT gene is normally constitutively expressed in all tissues at low levels, expression is elevated approximately fourfold in several regions of the central nervous system, particularly in the basal ganglia. The relationships between HPRT deficiency, tissue-specific alterations of nucleotide metabolism and the neuropathology of the Lesch-Nyhan syndrome remain unclear. Here we have microinjected recombinant molecules containing human HPRT (hHPRT) complementary DNA, the mouse metallothionein-I (MT-I) promoter and the 3'-untranslated portion of the human growth hormone (hGH) gene into mouse embryos to produce transgenic animals that express hHPRT on induction by cadmium. The hHPRT cDNA in these experiments contained 88 base pairs (bp) of 5'-untranslated and 190 bp of 3'-untranslated sequences, and the full-length coding sequence. We studied the in vivo expression of this MT-hHPRT fusion gene and observed preferential hHPRT expression in tissues of the central nervous system (CNS). This study suggests that sequences within the hHPRT transcript (cDNA) influence CNS expression via increased synthesis or stability of messenger RNA.

Animals↗
PubMedDate not supplied

HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.

Embryonal stem (ES) cell lines, established in culture from peri-implantation mouse blastocysts, can colonize both the somatic and germ-cell lineages of chimaeric mice following injection into host blastocysts. Recently, ES cells with multiple integrations of retroviral sequences have been used to introduce these sequences into the germ-line of chimaeric mice, demonstrating an alternative to the microinjection of fertilized eggs for the production of transgenic mice. However, the properties of ES cells raise a unique possibility: that of using the techniques of somatic cell genetics to select cells with genetic modifications such as recessive mutations, and of introducing these mutations into the mouse germ line. Here we report the realization of this possibility by the selection in vitro of variant ES cells deficient in hypoxanthine guanine phosphoribosyl transferase (HPRT; EC 2.4.2.8), their use to produce germline chimaeras resulting in female offspring heterozygous for HPRT-deficiency, and the generation of HPRT-deficient preimplantation embryos from these females. In human males, HPRT deficiency causes Lesch-Nyhan syndrome, which is characterized by mental retardation and self-mutilation.

Adenine Phosphoribosyltransferase↗
PubMed1996

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is an autosomal-recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis (absence of sweating) and absence of reaction to noxious stimuli, self-mutilating behaviour and mental retardation. The genetic basis for CIPA is unknown. Nerve growth factor (NGF) induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. Mice lacking the gene for TrkA, a receptor tyrosine kinase for NGF, share dramatic phenotypic features of CIPA, including loss of responses to painful stimuli, although anhidrosis is not apparent in these animals. We therefore considered the human TRKA homologue as a candidate for the CIPA gene. The mRNA and genomic DNA encoding TRKA were analysed in three unrelated CIPA patients who had consanguineous parents. We detected a deletion-, splice- and missense-mutation in the tyrosine kinase domain in these three patients. Our findings strongly suggest that defects in TRKA cause CIPA and that the NGF-TRKA system has a crucial role in the development and function of the nociceptive reception as well as establishment of thermoregulation via sweating in humans. These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental defect(s) of the nervous system.

Amino Acid Sequence↗
PubMed2001

Borderline personality traits in hysterical neurosis.

The objective of the present study is to demonstrate the traits of the psychopathology of Borderline Personality Disorder (BPD) compared with hysterical neurosis. A total of 48 subjects with BPD and 40 subjects with hysterical neurosis both defined by DSM-III-R were assessed by Diagnostic Interview for Borderlines (DIB). Statistical analysis was done by quantification of the second type, a multivariate data analysis. The total scores of DIB were BPD group, 6.13 +/- 1.52; hysterical neurosis group, 4.9 +/- 2.12 (t = 3.05, P = 0.0016). The correlation ratio (index of to what extent the two groups are discriminated) was 0.2442. Among the four parameters of: (i) affect, (ii) cognition, (iii) impulse-action pattern, (iv), and interpersonal relationships, the partial coefficient correlations of (iii) and (iv) were significantly high (0.342, 0.287, P < 0.01). The question items with high independent coefficients were manipulation (0.4416), intolerance of aloneness (0.3797), demanding nature (0.3768), self-mutilation (0.3609), visual hallucination (0.3395). Those with low score of independent coefficients were counterdependency (0.0533), identity disturbance (0.1010), depression (0.1551), loneliness (0.1752), hypomanic episode (0.1936). Both of BPD and hysterical neurosis groups were not so fairly well discriminated. However, these results suggested that impulse-action pattern and disorder of interpersonal relationships were traits of borderline personality disorder. We could admit manipulation, intolerance of aloneness as its symptoms. In addition, counterdependency, identity disturbance were comparatively common to both. There were some borderline personality traits symptomatically in hysterical neurosis.

Adolescent↗
PubMed1999

A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.

A nerve growth factor receptor encoded by the TRKA gene plays an important part in the formation of autonomic neurons and small sensory neurons in dorsal root ganglia and in signal transduction through its intracytoplasmic tyrosine kinase domain. Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. We examined the TRKA gene in five generations of a large Japanese family with many consanguineous marriages who live in a small remote island of the southern part of Japan. We found a novel point mutation at nucleotide 1825 (A-->G transition) resulting in Met-581-Val in the tyrosine kinase domain. Two of the three affected patients were homozygous for this mutation; however, the third affected patient was heterozygous. Further analysis revealed that the third patient was a compound heterozygote with the Met-581-Val mutation in one allele and with a single base C deletion mutation at nucleotide 1726 in exon 14 in the other allele, resulting in a frameshift and premature termination codon.

Adult↗
PubMedDate not supplied

Treatment histories of borderline inpatients.

In this study, we describe the types and amounts of psychiatric treatment received by a well-defined sample of borderline personality disorder (BPD) inpatients, and compare these parameters with those of a group of carefully diagnosed personality-disordered controls. Finally, we assess the risk factors associated with a history of intensive, high-cost treatment, which we defined as having had two or more prior psychiatric hospitalizations. The treatment histories of 290 borderline inpatients and 72 axis II controls were assessed using a reliable semistructured interview. All nine forms of treatment studied except electroconvulsive therapy (ECT) were common among borderline patients (36% to 96%). In addition, a significantly higher percentage of borderline patients than axis II controls reported a history of individual and group therapy, day and residential treatment, psychiatric hospitalization, participating in self-help groups, and taking standing medications. They were also significantly younger when they first entered individual therapy and began to take standing medications. In addition, borderline patients spent more time than axis II controls in individual therapy and psychiatric hospitals, and were on standing medications for a significantly longer period of time. They also reported a significantly higher number of psychiatric hospitalizations, lifetime number of standing medications, and number of psychotropic medications taken at the same time. In addition, we found a highly significant multivariate predictive model for multiple prior hospitalizations. The six significant predictors were age 26 or older, a history of quasi psychotic thought, lifetime number of self-mutilative efforts and suicide attempts, a childhood history of reported sexual abuse, and an adult history of being physically and/or sexually assaulted. Taken together, these results confirm clinical impressions concerning the high rates of mental health services used by borderline patients. They also suggest that particularly high rates of costly inpatient treatment are associated with a complex admixture of older age, BPD symptoms in the cognitive and impulse realms, and traumatic life experiences occurring in both childhood and adulthood.

Adolescent↗
PubMed2000

Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.

Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive disorder, is characterized by insensitivity to pain, self-mutilating behaviour, anhidrosis and recurrent hyperpyrexia. It is a hereditary sensory and autonomic neuropathy, also classified as HSAN, due to a defect of the receptor for nerve growth factor. CIPA is the first human genetic disorder caused by a defect in the neurotrophin signal transduction system. This is the first clinical report of CIPA patients characterized on molecular grounds. The clinical phenotypes of our patients show that CIPA is characterized by a multisystem involvement besides the nervous system, including bone fracture with slow healing, immunologic abnormalities, such as low response to specific stimuli, chronic inflammatory state ending in systemic amyloidosis. The molecular characterization allows a better understanding of most of the clinical features.

Abnormalities, Multiple↗
PubMed2004

The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene.

We report on a 10-year-old girl with anhidrosis and insensibility to pain, but no severe mental retardation or self-mutilation, diagnosed as hereditary sensory and autonomic neuropathy type IV (HSAN IV). Genetic analysis of her TRKA gene, which is responsible for HSAN IV, revealed two novel missense mutations in the tyrosine kinase domain. Cardiovascular autonomic nervous system function tests showed normal muscle sympathetic nerve activity associated with arterial baroreflex, reduced skin sympathetic nerve activity in the second and fifth fingers and palms, and abnormal circadian rhythm of cardiovascular autonomic nervous system. These findings have never before been reported in HSAN IV and may provide a clue to the neurological pathophysiology of this disease.

Autonomic Nervous System↗
PubMed2005

[Involuntary hospitalization of patients with anorexia nervosa: clinical issues and empirical findings].

Avoidance and refusal of treatment by patients with anorexia nervosa are eminent features of the disorder. A subgroup of severely ill patients are affected by involuntary hospitalizations. Based on empirical studies, this review analyzes whether patients with involuntary hospitalization differ from patients with voluntary treatment with regard to clinical characteristics and treatment outcomes. Furthermore, reasons for treatment refusal and diminished treatment motivation are outlined based on a selective review of the literature. Patients who where admitted involuntarily had significantly more previous hospitalizations and a longer duration of illness. Other predisposing factors for an involuntary admission were a history of childhood abuse and self-mutilative behavior, whereas a history of comorbid substance abuse or clinical depression was not predictive. Empirical findings suggest that weight restoration was similarly effective for both patient groups. Because catamnestic studies of patient groups with involuntary admissions are insufficient, it is presently difficult to assess the treatment response and the risk of mortality in the long-term. Future research is mandatory to identify risk factors in this special group of patients in order to establish specific interventions.

Adult↗
PubMed1998

The model-scene in group psychotherapy with chronic psychotic patients.

According to Lichtenberg (Lichtenberg, Lachman, & Fosshage, 1992), the model-scene is a scene imagined by the patient and the therapist that recalls the emotional content of a pattern of a relationship, which the patient has repeatedly experienced with a caregiver. In chronic psychotic patients, mechanisms of splitting, projection, and emotional self-mutilation make it particularly difficult to understand the archaic structures of interaction that maintain an influence on present behavior and internal emotional experience. The model-scene may be a useful instrument to integrate fragmented and dispersed mental elements. The authors describe their experience in an analytically oriented therapy group that was carried out in an institutional setting. The technique was based on the creation of model-scenes, starting from the relationships of individual members in the group.

Adult↗
PubMed1994

Calculated risks in the treatment of intractably suicidal patients.

PATIENTS who threaten suicide in all seasons, self-mutilate, and who from time to time make serious suicide attempts tax and challenge clinical workers. Every hospital has its legend about the exploits of such a patient. When these patients die of suicide, a wave of sorrow and guilt follows. Many therapists exclude them from their practices; keeping clinical balance in working with them is difficult. Intractably suicidal patients require much time and great energy from those responsible for their care. They draw forensic attention and excite hospital administrators to action. Much of the anxiety they arouse comes from the question of whether they should be admitted to the hospital and, once they have come into the hospital, from the reciprocal: whether they should go out again. The increasingly litigious climate in the United States makes the treatment of such persons extremely difficult. The purpose of this paper is to review the literature pertinent to the care of such patients, to outline the clinical principles necessary for their management and treatment, and to set forth the conditions that are necessary to minimize legal exposure in the event of suit in the wake of suicide.

Borderline Personality Disorder↗
PubMedDate not supplied

Suction to the breasts of a transsexual male.

Patients attending gender dysphoria clinics may report attempts to hasten the transition to the preferred gender. This may involve ingestion of higher quantities of hormones than prescribed or acts of self-mutilation to the genitals. A case is reported of an attempt to encourage breast-tissue development using a sink plunger.

Adult↗
PubMed2006

Lesch-Nyhan syndrome: reconstruction of a calcaneal defect with a sural flap.

Lesch-Nyhan syndrome is a familial disorder of uric acid metabolism and dysfunction of the central nervous system. We present a patient with the syndrome, who had a defect of the left calcaneal tissue with osteomyelitis caused by repeated self-mutilation. The defect was reconstructed with a sural flap.

Calcaneus↗
PubMed1998

Gentacoll hampers epithelialisation and neovascularisation in excisional wounds in hairless mice.

Our aim was to analyse the effect of Gentacoll on the rate of epithelialisation and neovascularisation in wound healing. Standardised circular full thickness dermal wounds 2.25 mm in diameter were created on the dorsum of each ear on 24 hairless homozygous mice (n = 48). The cartilaginous layer was left intact. The wounds were treated in a randomised blinded fashion with bovine collagen implants with gentamicin (Gentacoll) (n = 17); bovine collagen implants without gentamicin (n = 15); and Silicone film (n = 16). Epithelialisation and neovascularisation were measured directly by intravital video-microscopy and computerised planimetry immediately after the wounds had been made and every third day until the wounds closed. Only five of the wounds treated with Gentacoll (n = 17) epithelialised completely; and their mean (SEM) epithelialisation time was 22.8 (1.6) days, significantly longer than controls without gentamicin (n = 15) for which the corresponding figures were 14.5 (0.6) days. In nine wounds treated with Gentacoll the ear cartilage in the wound bed perforated and two wounds developed severe inflammation, which was followed by self-mutilation. Neovascularisation was incomplete in all of the wounds in the Gentacoll group, whereas it was completed by 25.3 (0.7) days in the control group treated with implants without gentamicin. In the silicone treated group (n = 16), epithelialisation was completed by 12.7 (0.7) days and neovascularisation by 25.1 (0.5) days. None of wounds treated with collagen or silicone alone showed reactions similar to the Gentacoll-treated ears. Gentacoll hampers epithelialisation and neovascularisation, and might damage exposed cartilage.

Animals↗
PubMed2006

Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.

UNLABELLED: Deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) may cause various clinical entities such as Lesch-Nyhan syndrome (LNS). A 9.5-y-old boy with the phenotypic features of LNS, including hyperuricaemia, choreoathetosis, self-mutilation and profound neurological dysfunction, was found to have HPRT deficiency. Normocytic anaemia, hyperuricaemia (uric acid 594.8 micromol/l) and microscopic haematuria with uric acid crystals were noted. Ultrasonography showed bilateral nephrocalcinosis and urinary bladder stones. In addition, he presented with three episodes of consciousness disturbance with limb paresis, possibly caused by atlantoaxial subluxation (AAS) with compression myelopathy. The diagnosis was made by the amount of residual enzyme activity and a single nucleotide substitution on the acceptor site region of intron 5 (IVS5-1 G-->C) of the HPRT gene, inherited from his asymptomatic mother. CONCLUSION: Lesch-Nyhan syndrome is a devastating sex-linked recessive disorder resulting from almost complete deficiency of the activity of HPRT. This report highlights the unusual AAS in a boy with LNS presenting recurrent consciousness change. The mutation described herein is a hitherto unreported splicing error leading to exon 6 skipping of the HPRT gene.

Atlanto-Axial Joint↗
PubMed1999

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Human TRKA encodes a high-affinity tyrosine kinase receptor for nerve growth factor (NGF), a member of the neurotrophin family that induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. We have recently demonstrated that TRKA is responsible for CIPA by identifying three mutations in a region encoding the intracellular tyrosine kinase domain of TRKA in one Ecuadorian and three Japanese families. We have developed a comprehensive strategy to screen for TRKA mutations, on the basis of the gene's structure and organization. Here we report 11 novel mutations, in seven affected families. These are six missense mutations, two frameshift mutations, one nonsense mutation, and two splice-site mutations. Mendelian inheritance of the mutations is confirmed in six families for which parent samples are available. Two mutations are linked, on the same chromosome, to Arg85Ser and to His598Tyr;Gly607Val, hence, they probably represent double and triple mutations. The mutations are distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain. These data suggest that TRKA defects cause CIPA in various ethnic groups.

Base Sequence↗
PubMed1994

Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism.

A 20-day-old male infant presented with acute renal failure. Three weeks later he developed acutely swollen, hot, red joints and tophi in his hands and feet. The serum uric acid was 2.2 mmol/l (normal 0.13-0.23 mmol/l) and the urinary oxypurine/creatinine ratio was 2.26 mmol (normal < 1.5 mmol). Complete deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) in intact erythrocytes confirmed Lesch-Nyhan syndrome. Neurological development was delayed and self-mutilation was observed at 22 months. Acute renal failure secondary to crystal nephropathy and tophaceous gout are unusual presenting features of this rare condition. This child also had transient neonatal hypothyroidism, which is not a recognized manifestation of the syndrome.

Acute Kidney Injury↗