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This paper proposes a novel software architecture for developing disease registries. Our proposal consists of five horizontal layers and two transversal layers. It takes into account several aspects of disease registries, such as various sources of data acquisition, security and privacy issues, data analytics, and user management tasks. Several use cases are presented: the Tunisian Fanconi Anemia Registry (TFAR), the Tunisian Gaucher Disease Registry (TGDR), the Tunisian Non-Hodgkin Lymphoma Registry (TNHLR), and the Tunisian Registry of Diabetes Type 1 (TRD-T1).

The purpose of disease registries is to collect and analyze data related to specific diseases in terms of incidence and prevalence. Since the data is typically entered by wearable sensors and/or human caregivers, errors in the data fields are often inevitable. In this paper, we propose a new approach to improve data quality in disease registries based on (a) a semi-random combination of parameters and (b) a learning algorithm for detecting and signaling the loss of quality of the entered data. To implement the approach, we have developed a novel adaptive neuro-fuzzy inference system. It is applied to specific sections of the Tunisian Fanconi Anemia Registry with the aims of reducing false alarms and automatically adjusting the parameters of coefficients of the disease. Our experimental results indicate that both aims can be achieved and effectively lead to improved data quality in disease registries.

We report a case of Lymphocytic Lymphoma presenting with primary manifestation in the prostate. A 82 year-old man presented to emergency department with acute urinary retention. Digital rectal examination revealed a voluminous and firm prostate. Histology confirmed involvement of the prostate by small B Lymphocytic Lymphoma. The patient was treated with chlorambucil. Lymphocytic infiltration of prostate is a rare manifestation. However this may also be the first sign of an undiagnosed lymphoma. This observation shows that the prostatic lymphoma must be considered among the causes of low urinary retention.

Resume A propos d'une observation d'aplasie medullaire avec syndrome malformatif nous discutons les criteres diagnostiques et les cadres nosologiques des 2 principales aplasies medullaires hereditaires s'accompagnant d'un syndrome malformatif : la maladie de Fanconi et la dyskeratose congenitale. Observation Une jeune fille, âgee de 19 ans, issue d'un mariage consanguin au troisieme degre, a ete hospitalisee pour exploration d'un syndrome anemique et hemorragique. L'examen clinique a montre un syndrome malformatif associant une microphtalmie, des taches cafe au lait, une hyperpigmentation generalisee et une dystrophie ungueale des doigts et des orteils sans leucoplasie des muqueuses. Un retard staturoponderal a ete note. L'hemogramme a montre une pancytopenie et la biopsie medullaire une moelle hematopoietique desertique en faveur d'une aplasie medullaire. Le caryotype realise sur des lymphocytes sanguins apres sensibilisation par la mitomycine C, a objective un syndrome d'instabilite chromosomique franc. Le diagnostic d'aplasie medullaire hereditaire a ete retenu et la patiente a ete mise sous norethandrolone. La patiente est decedee3 mois plus tard par choc septique. Discussion Devant un tableau d'aplasie medullaire associe a un syndrome malformatif, le diagnostic d'aplasie medullaire hereditaire est le plus probable. La maladie de Fanconi est la plus frequente, evoquee devant une dysmorphie de la face caracteristique avec microphtalmie, des taches cafe au lait, un retard staturoponderal, des anomalies de la colonne du pouce. La dystrophie ungueale, la leucoplasie des muqueuses sont presque pathognomoniques du diagnostic de dyskeratose congenitale. Si le syndrome malformatif est ambigu, l'etude cytogenetique ne permet pas de lever le doute diagnostique dans toutes les situations, comme dans notre observation.

Factor XIII deficiency is a rare autosomal recessive congenital disorder of haemostasis characterised by a plasmatic factor XIII level less than 1% in homozygote and bleeding as of the youth. We report a study about ten patients with congenital factor XIII deficiency from seven south-Tunisian families, there are seven females. Umbilical bleeding was common and only two patients had intracranial bleeding. The standard screening tests are normal. Factor XIII activity was less than 1% in all patients. A sub-unit A deficit was detected for the ten patients. Out hemorrhagic context, five patients receive regular prophylactic transfusion with fresh frozen plasma.

Resume La lymphadenite subaigue de Kikuchi-Fujimoto ou maladie de Kikuchi est une entite anatomoclinique d'evolution benigne de l'adulte jeune. Nous rapportons l'observation d'une jeune fille âgee de 20 ans consultee pour syndrome polyganglionnaire associe a une fievre. L'examen a revele des adenopathies disseminees faisant jusqu'a 6 cm de diametre. La vitesse de sedimentation etait acceleree a 40 mm a la premiere heure, les lacticodeshydrogenases etaient elevees a 593 UI/l. Les serologies de la rubeole, de l'hepatite B et C, du VIH et de la toxoplasmose etaient negatives ainsi que le bilan tuberculeux. La biopsie d'un ganglion cervical a conclu a une adenite necrosante non suppuree contenant des debris nucleaires avec une importante reaction histiocytaire, aspect en faveur d'une maladie de Kikuchi. L'evolution apres trois mois etait marquee par la regression des adenopathies sans aucun traitement. Il s'agit d'une nouvelle observation de maladie de Kikuchi caracterisee par un tableau clinicobiologique generalise, faisant evoquer fortement une hemopathie maligne en particulier lymphomateuse.

Background Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease. Findings Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state. Conclusion The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification. Virtual Slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1701276661617840.

Glanzmann's thrombasthenia (GT) is a rare congenital thrombopathy, with a recessive autosomal transmission. We present here the genealogic study of a series of patients suffering from GT.This is a retrospective study about all the GT patients treated in Sfax hematology department during 18 years. Final diagnosis was established by agregometry. Genealogic study was based on clinical history.17 cases of GT from 11 families from the south of Tunisia wen collected. The disease was paricularly frequent in the region of Moulares-Gafsa (7 patients). The percentage of consanguinity was also very high (82%), with a third degree consanguinity of 86%. Family investigation revealed 6 previously unknown cases, and 10 deaths subsequent to hemorrhagic manifestations.The high rate of consanguinity, the absence of clinical or biological manifestations in the parents, and the ratio of ill to normal subjects in the same family which was about one to four, are suggestive of an autosomal recessive mode of transmission.

Subacute necrotizing lymphadenitis or Kikuchi–Fujimoto disease is a benign pathological entity diagnosed chiefly in young adults. We report a case in a 20-year-old woman who presented with swollen lymph nodes and a fever. Disseminated lymphadenopathy with nodes measuring up to 6 cm in diameter was found upon physical examination. The erythrocyte sedimentation rate was elevated to 40 mm/h and the lactic dehydrogenase level to 593 IU/l. Findings were negative from serological tests for rubella, hepatitis B, hepatitis C, HIV, and toxoplasmosis, as well as from tests for tuberculosis. A biopsy of a cervical lymph node showed nonsuppurative necrosis, karyorrhexis, and a marked histiocytic reaction consistent with Kikuchi–Fujimoto disease. No treatment was given, and a full recovery was achieved within 3 months. In this patient, the disseminated lymphadenopathy and constitutional symptoms strongly suggested a hematological malignancy and more specifically a lymphoproliferative disease.

Gaucher's disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta glucocerebrosidase. This disease is usually diagnosed in the first or second decade of life with the arising of bone pains, splenomegaly and hemorragic manifestations due to thrombocytopenia. When the enlarged spleen is not evident, or after splenectomy, patients may be mis-identified as having Gaucher's disease. We present here two cases of elderly patients aged 70 and 46 years respectively, in whom the disease was a surprising finding of bone marrow examination, during check up for pancytopenia.

In this report, we studied the frequency, the types and the prognosis value of the Durie and Salmon's classification of radiological bone lesions in multiple mycloma. Our study concerned 52 patients presenting multiple myeloma, defined according to South West Oncology Group criteria, collected during nine years (1988-1996). Radiological anomalies were noted in 89% of the cases. When we compared the medial survival and the 5 years survival rate in the different groups, we found a statistically significant difference with a better survival for groups 0,1,2 considered all together as compared to group 3 patients (p = 0.0155), (71% versus 37%). According to our series, prognostic value is obviously significant when comparing groups 0, 1, and 2 to group 3.