Macrophage Activation in the Dorsal Root Ganglion in Rats Developing Autotomy after Peripheral Nerve Injury.

Autotomy, self-mutilation of a denervated limb, is common in animals after peripheral nerve injury (PNI) and is a reliable proxy for neuropathic pain in humans. Understanding the occurrence and treatment of autotomy remains challenging. The objective of this study was to investigate the occurrence of autotomy in nude and Wistar rats and evaluate the differences in macrophage activation and fiber sensitization contributing to the understanding of autotomy behavior. Autotomy in nude and Wistar rats was observed and evaluated 6 and 12 weeks after sciatic nerve repair surgery. The numbers of macrophages and the types of neurons in the dorsal root ganglion (DRG) between the two groups were compared by immunofluorescence studies. Immunostaining of T cells in the DRG was also assessed. Nude rats engaged in autotomy with less frequency than Wistar rats. Autotomy symptoms were also relatively less severe in nude rats. Immunofluorescence studies revealed increased macrophage accumulation and activation in the DRG of Wistar rats. The percentage of NF200+ neurons was higher at 6 and 12 weeks in Wistar rats compared to nude rats, but the percentage of CGRP+ neurons did not differ between two groups. Additionally, macrophages were concentrated around NF200-labeled A fibers. At 6 and 12 weeks following PNI, CD4+ T cells were not found in the DRG of the two groups. The accumulation and activation of macrophages in the DRG may account for the increased frequency and severity of autotomy in Wistar rats. Our results also suggest that A fiber neurons in the DRG play an important role in autotomy.

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.

BACKGROUND: Autosomal-recessive non-syndromic intellectual disability (ARNS-ID) is an aetiologically heterogeneous disorder. Although little is known about the function of human cereblon (CRBN), its relationship to mild cognitive deficits suggests that it is involved in the basic processes of human memory and learning. OBJECTIVES: We aim to identify the genetic cause of intellectual disability and self-mutilation in a consanguineous Saudi family with five affected members. METHODS: Clinical whole-exome sequencing was performed on the proband patient, and Sanger sequencing was done to validate and confirm segregation in other family members. RESULTS: A missense variant (c. 1171T>C) in the CRBN gene was identified in five individuals with severe intellectual disability (ID) in a consanguineous Saudi family. The homozygous variant was co-segregating in the family with the phenotype of severe ID, seizures and self-mutilating behaviour. The missense mutation (p.C391R) reported here results in the replacement of a conserved cysteine residue by an arginine in the CULT (cereblon domain of unknown activity, binding cellular ligands and thalidomide) domain of CRBN, which contains a zinc-binding site. CONCLUSIONS: These findings thus contribute to a growing list of ID disorders caused by CRBN mutations, broaden the spectrum of phenotypes attributable to ARNS-ID and provide new insight into genotype-phenotype correlations between CRBN mutations and the aetiology of ARNS-ID.

Regeneration patterns influence hindlimb automutilation after sciatic nerve repair using stem cells in rats.

INTRODUCTION: Hindlimb autophagy is common after rat sciatic total axotomy and is considered as a sign of neuropathic pain. We applied adult stem cells in a fibrin conduit in a total sciatic axotomy model to improve nerve regeneration, investigating whether a correlation could be detected between stem cells effects on regeneration and limb autophagy. MATERIAL AND METHODS: After sciatic nerve section, a 1-cm sciatic gap was crossed using fibrin conduits. Experimental groups included empty fibrin conduits, fibrin conduits seeded with primary Schwann cells, and fibrin conduits seeded with Schwann cell-like differentiated mesenchymal or adipose-derived stem cells (dMSCs and dASCs). Controls were represented by autografts and by sham rats (tot n=34). At 16 weeks post-implantation, regeneration pattern was analysed on histological sections and related to eventual autophagy. Hindlimbs were evaluated and scored according to autophagy Wall's scale and X-Rays radiological evaluation. RESULTS: All regenerative cell lines significantly improved myelination at the mid conduit level, compared to the empty tubes. However, dMSC could not significantly improve myelination at the distal stump, showing a more chaotic regeneration compared to both other cells groups and controls. Autophagy was correlated to this regeneration patterns, with higher autophagy scores in the empty and dMSC group. CONCLUSION: Hindlimb autophagy can be used as index of neuropathic pain due to nerve lesion or on-going immature regeneration. dMSC group was characterized by a less targeted regeneration comparing to dASC and primary Schwann cells, which confirmed their effectiveness in regeneration and potential in future clinical applications.

Foreign bodies in the sigmoid colon of a psychiatric patient following self-mutilation: a case report.

BACKGROUND: The act of deliberate injury to one's own body without the help of others is a well-known phenomenon in psychiatric patients. Insertion of foreign bodies into one or more orifices is not uncommon but insertion into a body cavity or the gastrointestinal tract by self-inflicted injury is quite rare. CASE PRESENTATION: A 32-year-old Ethiopian psychiatric patient presented with left lower abdominal pain of three months' duration following the insertion of foreign bodies via a self-inflicted wound in the left lower quadrant of his abdomen. Radiological evaluation demonstrated the presence of foreign bodies. A laparotomy revealed two metallic and three wooden materials in his sigmoid colon and a hole in his sigmoid that was tightly sealed with omentum. The foreign bodies were successfully removed, the hole was closed primarily, and our patient was discharged uneventfully. CONCLUSIONS: This case illustrates that a foreign body can be inserted into the colon through a self-inflicted wound in psychiatric patients, and patients may present months later without having developed generalized peritonitis.

Successful treatment of self-inflicted tongue trauma patient using a special oral appliance.

A 7-year-old male presented with a painful ulcerative lesion on the right lateral tongue and left lower buccal mucosa due to self-inflicted trauma. Antibiotic medication and use of a mouthwash agent were not effective. We made a special oral appliance to cover the maxillary arch and teeth to protect the tongue. The patient showed immediate improvement and did not suffer from any complications. Invasive procedures such as biopsy were not needed. We believe that accurate clinical diagnosis is important and treatment with an oral appliance is effective in self-inflicted oral trauma in children.

Non-nutritive sucking associated with self-mutilating behavior / Hábito de sucção não-nutritiva associada à automutilação

Although sucking activity has been considered an essential behavior of early childhood to satisfy nutritive and non-nutritive needs, digit andpacifier sucking are deleterious oral habits that may interfere with child development. Furthermore, this clinical picture may be compounded by other concerning habits, such as self-mutilating behavior. This article reports 4-year follow-up of a child in whom non-nutritive sucking was associated with an unusual self-mutilating behavior; namely, the child would pull out her own hair after wrapping it around her finger every time she sucked on the pacifier. This occurred specially at bedtime, while she was watching TV, or when she was somewhat anxious, and remitted and recurred throughout the follow-up period. In an attempt to address this behavior, pacifier use was discontinued and the child?s head was shaved. Ultimately, the case was only solved through combined efforts involving the child, her family, and health professionals. Based on the parents? reports and clinical examination and follow-up findings, we emphasize the importance of investigating the origin of the problem and considering emotional aspects and its association with other habits in such cases.

Apesar de a atividade de sucção ser considerada um comportamento essencial da primeira infância por satisfazer as necessidades nutritivase não-nutritivas, a sucção do dedo e chupeta são hábitos deletérios ao desenvolvimento da criança. Além disso, esse quadro clínico podeser ainda mais preocupante se houver associação com outros hábitos, como o da automutilação. Neste contexto, no presente artigo sãorelatados 4 anos de acompanhamento de uma criança que costumava arrancar seus cabelos depois de enrolá-los nos dedos enquanto estavacom a chupeta na boca, sem demonstrar sinal algum de sintomatologia dolorosa. Tal fato ocorria especialmente próximo a períodos de sono, ansiedade ou quando assistia à televisão, havendo períodos de remissão e exacerbação. Na tentativa de solucionar o caso foi proposta, além da interrupção do uso da chupeta, a raspagem de todo o cabelo da criança. Contudo, a solução definitiva só foi possível quando houve o envolvimento coletivo, abrangendo criança, família e profissionais da saúde. Baseando-se no relato dos pais, no exame clínico e no acompanhamento do caso, enfatiza-se a importância de se investigar a origem do problema, considerando os aspectos emocionais e sua associação com outros hábitos.

Síndrome de Ekbom secundária a transtorno orgânico: relato de três casos / Secondary Ekbom Syndrome to organic disorder: report of three cases

A Síndrome de Ekbom, também conhecida como delírio de parasitose ou acarofobia, é um estado fóbico obsessivo no qual o paciente pensa, imagina ou acredita que está infestado por parasitas na pele. Em estado alucinatório, retira fragmentos de pele, identificando-os como parasitas. Pode tratar-se de um quadro psiquiátrico primário ou secundário a outros transtornos orgânicos. Geralmente, esses pacientes demoram a procurar ajuda médica, e o dermatologista, quase sempre, é o primeiro profissional procurado. Descrevemos o caso de três pacientes dos quais apresentaram delírio de parasitose, associados a transtornos orgânicos.

The Ekbom syndrome, also known as delusion of parasitosis or acarophobia is an obsessive phobic state in which the patient thinks, imagines or believes that his or her skin is infested by parasites. In the hallucinatory state, he/she removes parts of the skin, identifying them as parasites. It can be primary or secondary to other organic or psychiatric diseases. Generally speaking these patients take a long time to seek for medical support and the dermatologist is almost always the first physician to see them. Here we describe three patients with delusional parasitosis associated with organic disorders.

Severe gingival recession in trisomy 18 primary dentition. A clinicopathologic case report of self-inflicted injury associated with mental retardation.

This clinicopathologic case report documents severe gingival recession in the primary dentition of a trisomy 18 patient. Primary molar and canine teeth exhibited recession extending beyond the midpoint of the buccal aspect of the root, occasionally reaching the root apex. Radiographic examination revealed taurodontism in both primary and permanent teeth. Clinical and histopathologic findings, along with case history, eliminated the possibility of prepubertal periodontitis and suggested a diagnosis of self-inflicted injury associated with mental retardation. Histologic examination of the primary teeth revealed normal cementum and dentin structure. Taurodontism, histologic structure of the dentition, and severe attachment loss in the primary dentition have not been described previously in trisomy 18.

Congenital insensitivity to pain with anhidrosis: a case report.

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.

[Therapy refractory unilateral chronic blepharokeratoconjunctivitis as the chief manifestation of auto-aggression syndrome. Clinico-histopathologic findings]. / Therapieresistente einseitige chronische Blepharokeratokonjunktivitis als Leitbefund für Autoaggressionssyndrome. Klinisch-histopathologische Befunde.

UNLABELLED: Autoaggressive syndromes as causes of diseases underlying chronic blepharitis and keratoconjunctivitis that are refractory to treatment are often difficult to recognize. PATIENTS: Three female patients (age 21, 25, 41 years) and one male patient (age 42 years) had suffered from a right-(4x) or left-(1x) handed treatment-refractory blepharokeratoconjunctivitis for 1, 2, 11 and 30 months prior to admission. In each case more than 5 ophthalmologists and 2-6 eye hospitals had been consulted, and extraocular surgery had been performed 1-4 times. RESULTS: Patients presented with a visual acuity of 0.3 p (1x), 0.1 (1x), FC (1x), HM (1x). In three patients contact eczema of the facial skin and lids and a corneal pannus were observed; in two patients we saw purulent pseudomembranous and in two patients chronic cicatrizing keratoconjunctivitis. Conjunctival smears grew P. aeruginosa, and S. aureus; impression cytology showed infiltration with neutrophils and epithelial keratinization; histopathology indicated chronic inflammatory, partly purulent subepithelial and stromal conjunctival infiltrate with hyper- and parakeratosis fibrous strands and epithelial cell loss; the lower lids showed parakeratosis, focal necrosis, intercellular edema and a lymphohistiocytic round-cell infiltrate. Furthermore, multiple allergies to antibiotics and preservatives (4x), lacerations of the arms and legs (2x) and an irritative-toxic dermatitis (1x) were substantiated. In the patients who agreed to a psychiatric consultation, somatized-agitated longing for care combined with a dependent and infantile personality (1x) and reactive depression (2x) were verified. CONCLUSIONS: In patients suffering from treatment-refractory unilateral chronic blepharokeratoconjunctivitis correlated with the hand, one must take into consideration the fact that other factors may be involved: possible exacerbation prior to examinations; multiple inpatient diagnostic and surgical procedures in different locations; histopathological mixed inflammatory patterns; and psychiatric syndromes.

Carbamazepine trial for Lesch-Nyhan self-mutilation.

Anticonvulsants may reduce the self-mutilation of acquired sensory neuropathy, and one report described sensory neuropathy in an older patient with Lesch-Nyhan syndrome. We performed nerve and muscle biopsies on four patients with Lesch-Nyhan syndrome and initiated an uncontrolled pilot trial to see if carbamazepine would reduce the self-mutilation in these patients. All of the boys had clinical features typical of Lesch-Nyhan syndrome, and the diagnosis was confirmed in each by enzyme analysis. No specific abnormalities were identified in either nerve or muscle. Nevertheless, self-mutilation and the need for constant restraint diminished in all four patients, though in one the effect was only transient. Two patients had increased self-mutilation when carbamazepine was stopped, then improved a second time when treatment was restarted. Sensory neuropathy was not confirmed, so any effect of carbamazepine is likely to be on the central nervous system.

Morsicatio buccarum et labiorum (excessive cheek and lip biting).

In some individuals habitual cheek and lip biting becomes a fixed neurosis. Pieces of oral mucosa are actually torn free from the surface, producing a distinctive clinical appearance termed morsicatio buccarum et labiorum. Sometimes it may be confused with other dermatological disorders involving the oral mucosa, and can lead to misdiagnosis. Most patients with this condition are unaware of their habit and will not aid in the diagnosis. We suggest that the histopathological features of this condition are distinctive, if not pathognomonic, and that an accurate diagnosis should be rendered if a biopsy sample is taken. Two cases are reported herein that were originally misdiagnosed as pemphigus, one of which resulted in complications of improper oral corticosteroid use.

Unusual pigmentation of the gingiva. Report of two different types.

Two unusual types of oral mucosal pigmentation are reported. The first type is due to the use of an oral hygiene aid that is obtained from the bark of a plant, Juglans regia, that is known as Derum or Dendasa. The second type is that of a self-induced tattoo of the buccal maxillary gingiva created with soot obtained from burned wood in clay ovens.

Trauma to the nail unit including occupational sports injuries.

Trauma to the nail unit is one of the most common causes of onychodystrophy and may be acute (a single overwhelming injury) or chronic (repeated minor injury). Immediate effects of acute trauma include splinter hemorrhages, subungual hematomas, and nail shedding. Delayed deformities include splits and ridges, pterygium, hook nails, pigment bands, and ectopic nail. Also discussed are the results of chronic trauma, including self-inflicted injury and repeated indirect injury.

The orofacial manifestations of the Lesch-Nyhan syndrome.

The Lesch-Nyhan syndrome is a rare sex-linked inborn error of purine metabolism characterised by hyperuricaemia, mental handicap, neurologic disorders, and self-destructive behaviour. The literature is reviewed and a 12-year-old patient exhibiting mutilation of the lip and tongue is reported.