RESUMEN

Factor X deficiency is one of the rarest coagulation disorders representing 10% of all rare bleeding diseases with a frequency of 1:1,000,000. A 39-year-old male patient with no previous medical conditions was admitted to the hospital with a left carpal ganglion for surgical excision. Routine preoperative laboratory examination revealed a high international normalized ratio of 5.4 IU (0.8-1.1) and a prothrombin time of 72.2 s (10.9-13.6), with an isolated factor X level of less than 5%. Genetic testing for congenital factor X deficiency identified a homozygous mutation c.271 > A (p.Glu91). Vitamin K supplementation did not improve his international normalized ratio or increase factor X levels; hence, surgery was delayed. The patient was re-hospitalized to remove a wisdom tooth, during which fresh frozen plasma was administered. An allergic reaction complicated this procedure in the form of a rash on the body. As a result, the tooth was removed without active bleeding. This report presents a unique factor X deficiency case with limited treatment options to improve factor X levels after failed vitamin K administration and an allergic reaction to fresh frozen plasma. A physician's observation and ongoing follow-up were the only reasonable approaches in treating the patient with mild to moderate factor X deficiency due to lack of prothrombin complex concentrates or factor X replacement at the center at the time.

RESUMEN

The historian studies revealed during Mendel's later research period when mainly focusing on the constant hybrid in Hieracium, he had to be intervened to conduct the controlled pollination experiments in Mirabilis jalapa. Two letters to Nageli recorded the experimental aim was to disprove Darwin's opinion regarding three pollen grains required for one fertilization (note: that could completely destroy his previous discovery of segregation inheritance in variable hybrid in Pisum, for it was expressed in a mathematical equation). The experimental results of single pollen grain pollination confirmed the referenced view of one pollen cell uniting one egg cell in plant fertilization; the further pedigree introduction of the single and of the designed two pollen grain experiment succeeded in exemplifying that one hereditary factor carried by one gamete (pollen cell or egg cell) can independently transmit a trait to offspring. Here we coined the observation as the Gamete Theory of Inheritance. Remarkably, in contrast with the bulked pollination experiment, in this system, Mendel could easily manipulate a hereditary factor by merely taking a gamete as a carrier. Then, Mendel's work in M. jalapa together with the previous Pisum study was able to jointly suppport his second lecture content that regarded "gamete formation, fertilization, and seed development" and also regarded hereditary factors in the processes. All in all, the 1866 paper was published during a rapid burst of interest in hybrid species likely induced by Darwin, and Mendel's attempts at accommodation of the two incompatible inheritances of segregation in variable hybrids versus of nonsegregation in constant hybrids might be responsible for some historical controversies when understanding his discovery of inheritance.

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RESUMEN

In growing patients with Class III malocclusion, the various patterns of maxillofacial growth are a key element that affects the success or failure of treatment. Therefore it is important to correctly predict maxillofacial growth before initiating treatment. The purpose of this study was to find out the correlation between the maxillofacial morphology of parents and their Class III children by analyzing lateral cephalograms and hereditary factors. Among Class III preadolescent children, 50 families were obtained. To find out the specific hereditary factors involved, fingerprints were obtained and genetic correlation with the maxillofacial morphology was analyzed. The following conclusions were made. 1. A significant correlation (P<0.05-0.001) was found in many of the cephalometric measurements between the offspring and their parents. The correlation in the skeleton measurements was higher than in the denture measurements. The father-offspring correlation was higher than the mother-offspring correlation 2. A significant correlation (P<0.05-0.001) was found in fingerprint units between the offspring and their parents. The mother-offspring correlation was higher than the father-offspring correlation. 3. Between the maxillofacial morphology and fingerprint units, there was significant genetic correlation (P<0.05-0.01). Based on the analysis of genetic correlation, higher correlation was found in the parent-son pairing than the parent-daughter pairing.

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RESUMEN

Hereditary factor VII deficiency is a rare disorder transmitted by autosomal recessive pattern and its clinical feature is extremely variable. Recently we have experienced a case who was performed herniorrhaphy without any cryoprecipitate or fresh frozen plasma replacement therapy. A 21-year-old patient who had undergone intermittent nasal bleeding was noted for prolonged prothrombin time(INR of 1.5). The level of the factor VII of the patient was decreased at 22% of the normal activity. His parents had normal level of factor VII activity. Both his sister and brother had decreased level of factor VII at 41% and 24% respectively. Herniorrhaphy was performed without factor replacement therapy and there was no visible postoperative bleeding. We report here a case of factor VII deficiency performed an operation successfully without any replacement therapy.

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