Periodontal status in two siblings with severe congenital neutropenia: diagnosis and mutational analysis of the cases

BACKGROUND: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, was originally reported as an autosomal recessive disease of neutrophil production. The disease is characterized by a maturation arrest of neutrophil precursors at the promyelocytic stage of differentiation and by extremely low levels of mature neutrophils in peripheral blood. METHODS: A 6-year-old male presented with a complaint of gingival swelling and bleeding, and swelling at the left side of his face. Upon clinical examination, severe inflammation of all gingival tissues was apparent, and a periapical abscess with mobility was noted on the left mandibular second molar. Medical and dental histories revealed numerous recurrent bacterial infections associated with oral and non-oral tissues. His medical history with recurrent infections led us to evaluate his 3-year-old sister to determine the status of her oral health. Inflammation of her oral tissues and recurrent bacterial infections were apparent. Their consanguineous parents were in good health. To assist in identifying possible systemic diseases underlying the inflammatory situation in the siblings, consultations were requested from the Pediatric Hematology Department at Selcuk University and Pediatric Oncology Department at Gulhane Military Medical Academy. RESULTS: Based on absolute neutrophil count (< or =200/mm(3)) and bone marrow aspiration findings consistent with early maturation arrest in myelopoiesis, the cases were diagnosed as SCN. No chromosomal abnormality was detected upon cytogenetic examination. Sequencing analysis also revealed no mutation in the neutrophil elastase or growth factor independent-1 (GFI-1) genes in these patients. Severe periodontal disease, attachment loss, and mobility for over 50% of the deciduous teeth were noted. Within 6 months, the male sibling lost all of his deciduous teeth due to periapical and periodontal infections. His sister presented with tooth mobility for all mandibular incisors. Monthly visits, including scaling, polishing, and 0.2% chlorhexidine digluconate irrigation were performed to support their oral hygiene and to avoid recurrent oral infections. We have been able to stabilize these patients' periodontal conditions during a 2-year follow-up period. CONCLUSION: This case report emphasizes the role of periodontists and pediatric dentists in the diagnosis of diseases linked with neutrophil and other systemic disorders and highlights the need to optimize the health of oral tissues with regular appointments.     

Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome

BACKGROUND: Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive disease characterized by palmoplantar hyperkeratosis and severe periodontitis affecting both primary and secondary dentitions. Cathepsin C (CTSC) gene mutations are etiologic for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. METHODS: A 4-year-old female (case 1) and her 10-year-old sister (case 2) presented with palmoplantar skin lesions, tooth mobility, and advanced periodontitis. Based on clinical findings, the cases were diagnosed with PLS. Mutational screening of the CTSC gene was conducted for the cases, and their clinically unaffected parents and brother. Biochemical analysis was performed for CTSC, cathepsin G (CTSG), and elastase activity in neutrophils for all members of the nuclear family. The initial treatment included oral hygiene instruction, scaling and root planing, and systemic amoxicillin-metronidazole therapy. RESULTS: CTSC mutational screening identified a c.415G>A transition mutation. In the homozygous state, this mutation was associated with an almost complete loss of activity of CTSC, CTSG, and elastase. Although monthly visits, including scaling, polishing, and 0.2% chlorhexidine digluconate irrigation were performed to stabilize the periodontal condition, case 1 lost all her primary teeth. In case 2, some of the permanent teeth could be maintained. CONCLUSIONS: This report describes two siblings with a cathepsin C gene mutation that is associated with the inactivity of cathepsin C and several neutrophil serine proteases. The failure of patients to respond to periodontal treatment is discussed in the context of these biological findings.     

Chronic bilateral hearing loss in an immunocompetent patient: An atypical course of tuberculous meningitis

Congenital, infectious, toxic, and demyelinating disorders are common etiological causes of deafness. Tuberculous meningitis, as one of the infectious causes, should be considered in the differential diagnosis since tuberculosis represents an endemic public health problem in developing countries. Multiple cranial nerve palsies can be expected due to basal meningitis; however, presentation with bilateral hearing loss is quite rare. Early diagnosis and treatment are crucial to prevent mortality and residual neurologic deficits. The focus of this discussion is a 42-year-old female presenting with bilateral hearing loss and nonspecific complaints who was finally diagnosed with chronic tuberculous meningitis. We also demonstrate the characteristic radiological and histopathological findings.Congenital, infectious, toxic, vascular, tumoral, and demyelinating disorders are common etiologic factors that can result in deafness. Acoustic trauma, endolymphatic hydrops, and senility are relatively rare causes that should also be taken into account. Bilateral hearing loss is an unusual clinical presentation, resulting from any one of these conditions. Among the infectious causes, tuberculosis still represents an endemic public health problem in developing countries and tuberculous meningitis, which is the most common form of CNS involvement, accounts for 1-2% of these cases.1 Sufferers generally describe constitutional symptoms including fever and night sweats or various complaints arising from basal meningitis like headache, nausea, and/or vomiting; however, presentation with bilateral hearing loss is quite rare. The objective of this case presentation is to include tuberculous meningitis in the differential diagnosis of progressive bilateral hearing loss, and emphasize the importance of early diagnosis and treatment to prevent morbidity and mortality.     

An alternative method of transperitoneal graft introduction in aortobifemoral bypass surgery

Aorto-iliac occlusive (AIO) disease is one of the most common forms of arteriosclerosis obliterans (ASO).1 The gold-standard treatment of this disease is aortofemoral bypass surgery, according to the Inter-Society Consensus for the Management of Peripheral Arterial Disease (TASC II) study.1-3Surgeons have performed this procedure for many years with good long-term results. Vascular damage, bleeding, intestinal damage, ileus, myocardial infarction and renal failure are considered short-term complications. Secondary aorto-enteric fistula, sexual dysfunction, infection, graft thrombosis and anastomotic pseudo-aneurysm may be considered long-term complications.4-6 Among these complications, vascular damage, intestinal damage and aorto-enteric fistulae usually occur while introducing the graft into the femoral area.If the tunneller, which was specifically designed for aortofemoral bypass procedures, is not available for some reason, long, blunt-tipped tunnelling forceps are used instead. A nylon tape is taken through the tunnel with the tunnelling forceps after the tunnel is created. Aortic anastomosis is performed after heparinisation.Connecting the distal ends of the graft to the femoral area is performed in the conventional method by introducing the forceps into the tunnel a second time and pulling the graft through the tunnel. In an alternative method, the nylon tape that is taken through the tunnel with the tunnelling forceps is tied to the graft, which is pulled through into the femoral area. By not introducing the forceps a second time into the tunnel, complications caused by the forceps may be reduced. The results of both methods were analysed for postoperative bleeding, vascular injury and intestinal complications.     

Can d-dimer become a new diagnostic parameter for acute appendicitis?

Introduction

In this study, we investigated d-dimer serum level as a diagnostic parameter for acute appendicitis.

Materials and Methods

Forty-nine patients were enrolled in the study. Patients were classified according to age; sex; duration between the beginning of pain and referral to a hospital or clinic; Alvarado scores; and in physical examination, presence of muscular defense, the number of leukocytes, preoperative ultrasonography, and d-dimer levels of histopathologic study groups were analyzed.

Results

Of the patients enrolled in the study, 26.5% were females and 73.5% males. The average age was 21 years (range, 16-38 years) and 81.7% acute appendicitis (AA). According the duration of pain, 63.2% of the patients were referred to the hospital within the first 24 hours, 26.5% of the patients were referred to the hospital within 24 to 48 hours, and 10.3% were referred to the hospital within a period of more than 48 hours. No statistically significant difference was determined regarding d-dimer levels between the histopathologic study groups (P > .05). Alvarado scores lower than 7 were found in 36.7% and 7 or higher in 63.3% of the patients. There was no statistically significant difference related with d-dimer levels between histopathologic study groups (P > .05). The ratio of cases with a number of leukocytes below the upper limit were determined respectively as 32.7% and 67.3%, and no statistically significant difference was found regarding d-dimer levels between histopathologic study groups (P > .05).

Conclusion

Increased d-dimer levels should not be considered as a diagnostic parameter in diagnosis of acute appendicitis.